SAPA - SNP Annotation Programm for AML

All annotated SNPs are listed below, see SAPA GIT for details.

ID Chr Pos Ref Alt Type Context Consequence dbSNP COSMIC ClinVar Qual Alt Freq [%] Total Depth Ref Depth Alt Depth Strand Bias Chr Start End Ref Alt Func_refGene Gene_refGene GeneDetail_refGene ExonicFunc_refGene AAChange_refGene cytoBand esp6500siv2_all avsnp147 SIFT_score SIFT_pred Polyphen2_HDIV_score Polyphen2_HDIV_pred Polyphen2_HVAR_score Polyphen2_HVAR_pred LRT_score LRT_pred MutationTaster_score MutationTaster_pred MutationAssessor_score MutationAssessor_pred FATHMM_score FATHMM_pred PROVEAN_score PROVEAN_pred VEST3_score CADD_raw CADD_phred DANN_score fathmm_MKL_coding_score fathmm_MKL_coding_pred MetaSVM_score MetaSVM_pred MetaLR_score MetaLR_pred integrated_fitCons_score integrated_confidence_value GERP_RS phyloP7way_vertebrate phyloP20way_mammalian phastCons7way_vertebrate phastCons20way_mammalian SiPhy_29way_logOdds final prediction
1735 19 11100286 G A Pathogenic/Likely pathogenic LDLR . . . . . . . . . . 19 11100286 11100286 G A exonic LDLR . stopgain LDLR:NM_000527:exon2:c.G131A:p.W44X,LDLR:NM_001195798:exon2:c.G131A:p.W44X,LDLR:NM_001195799:exon2:c.G131A:p.W44X,LDLR:NM_001195800:exon2:c.G131A:p.W44X,LDLR:NM_001195803:exon2:c.G131A:p.W44X 19p13.2 . rs267607213 . . . . . . 0.000 D 1 A . . . . . . . 11.263 37 0.995 0.977 D . . . . 0.646 0 5.37 0.917 0.998 0.984 0.979 17.874 Deleterious (FATHMM)
1736 19 11102662 A G Pathogenic/Likely pathogenic LDLR . . . . . . . . . . 19 11102662 11102662 A G splicing LDLR NM_001195803:exon3:c.191-2A>G,NM_001195798:exon3:c.191-2A>G,NM_000527:exon3:c.191-2A>G,NM_001195800:exon3:c.191-2A>G . . 19p13.2 . rs544203837 . . . . . . . . 1 D . . . . . . . 3.519 23.1 0.983 0.992 D . . . . 0.284 0 5.59 1.062 1.140 0.703 0.429 14.730 Deleterious (FATHMM)
1737 19 11102732 T G Pathogenic/Likely pathogenic LDLR . . . . . . . . . . 19 11102732 11102732 T G exonic LDLR . nonsynonymous SNV LDLR:NM_000527:exon3:c.T259G:p.W87G,LDLR:NM_001195798:exon3:c.T259G:p.W87G,LDLR:NM_001195800:exon3:c.T259G:p.W87G,LDLR:NM_001195803:exon3:c.T259G:p.W87G 19p13.2 . rs121908025 0.101 T 1.0 D 0.999 D 0.000 D 1 D 3.5 M -3.96 D -6.51 D 0.967 6.073 28.1 0.979 0.975 D 1.101 D 0.954 D 0.672 0 5.65 0.991 1.011 0.503 0.892 14.85 Deleterious
1738 19 11102734 G A Pathogenic LDLR . . . . . . . . . . 19 11102734 11102734 G A exonic LDLR . stopgain LDLR:NM_000527:exon3:c.G261A:p.W87X,LDLR:NM_001195798:exon3:c.G261A:p.W87X,LDLR:NM_001195800:exon3:c.G261A:p.W87X,LDLR:NM_001195803:exon3:c.G261A:p.W87X 19p13.2 . rs199570811 . . . . . . 0.000 D 1 A . . . . . . . 11.567 37 0.995 0.974 D . . . . 0.672 0 5.65 0.917 0.998 0.527 0.885 18.490 Deleterious (FATHMM)
1739 19 11102774 G A Pathogenic/Likely pathogenic, not provided LDLR . . . . . . . . . . 19 11102774 11102774 G A exonic LDLR . nonsynonymous SNV LDLR:NM_000527:exon3:c.G301A:p.E101K,LDLR:NM_001195798:exon3:c.G301A:p.E101K,LDLR:NM_001195800:exon3:c.G301A:p.E101K,LDLR:NM_001195803:exon3:c.G301A:p.E101K 19p13.2 7.7e-05 rs144172724 0.025 D 1.0 D 1.0 D 0.000 D 1 D 4.735 H -4.61 D -3.61 D 0.908 5.916 27.5 0.999 0.980 D 1.034 D 0.979 D 0.672 0 4.6 0.917 0.998 0.517 0.718 15.669 Deleterious
1740 19 11102787 G T Pathogenic/Likely pathogenic LDLR . . . . . . . . . . 19 11102787 11102787 G T splicing LDLR NM_001195803:exon3:c.313+1G>T,NM_001195798:exon3:c.313+1G>T,NM_000527:exon3:c.313+1G>T,NM_001195800:exon3:c.313+1G>T . . 19p13.2 . rs112029328 . . . . . . . . 1 D . . . . . . . 3.622 23.2 0.973 0.983 D . . . . 0.284 0 5.65 0.917 0.998 0.581 0.896 18.490 Deleterious (FATHMM)
1741 19 11102787 G C Pathogenic/Likely pathogenic LDLR . . . . . . . . . . 19 11102787 11102787 G C splicing LDLR NM_001195803:exon3:c.313+1G>C,NM_001195798:exon3:c.313+1G>C,NM_000527:exon3:c.313+1G>C,NM_001195800:exon3:c.313+1G>C . . 19p13.2 . rs112029328 . . . . . . . . 1 D . . . . . . . 3.520 23.1 0.974 0.984 D . . . . 0.284 0 5.65 0.917 0.998 0.581 0.896 18.490 Deleterious (FATHMM)
1742 19 11102787 G A Pathogenic/Likely pathogenic, not provided LDLR . . . . . . . . . . 19 11102787 11102787 G A splicing LDLR NM_001195803:exon3:c.313+1G>A,NM_001195798:exon3:c.313+1G>A,NM_000527:exon3:c.313+1G>A,NM_001195800:exon3:c.313+1G>A . . 19p13.2 . rs112029328 . . . . . . . . 1 D . . . . . . . 3.841 23.4 0.974 0.977 D . . . . 0.284 0 5.65 0.917 0.998 0.581 0.896 18.490 Deleterious (FATHMM)
1743 19 11105232 G A Pathogenic/Likely pathogenic LDLR . . . . . . . . . . 19 11105232 11105232 G A exonic LDLR . nonsynonymous SNV LDLR:NM_001195799:exon3:c.G203A:p.C68Y,LDLR:NM_000527:exon4:c.G326A:p.C109Y,LDLR:NM_001195798:exon4:c.G326A:p.C109Y 19p13.2 . rs121908042 0.001 D 1.0 D 0.997 D 0.000 D 1 D 4.405 H -6.07 D -9.33 D 0.991 5.272 25.7 0.986 0.999 D 0.961 D 0.991 D 0.672 0 5.33 0.917 0.994 0.982 0.523 17.769 Deleterious
1744 19 11105243 G T Pathogenic/Likely pathogenic LDLR . . . . . . . . . . 19 11105243 11105243 G T exonic LDLR . stopgain LDLR:NM_001195799:exon3:c.G214T:p.E72X,LDLR:NM_000527:exon4:c.G337T:p.E113X,LDLR:NM_001195798:exon4:c.G337T:p.E113X 19p13.2 . . . . . . . . 0.149 N 1 A . . . . . . . 9.506 35 0.997 0.994 D . . . . 0.672 0 1.72 -0.044 0.994 0.961 0.690 9.788 Deleterious (FATHMM)
1745 19 11105366 C T Pathogenic/Likely pathogenic LDLR . . . . . . . . . . 19 11105366 11105366 C T exonic LDLR . stopgain LDLR:NM_001195799:exon3:c.C337T:p.Q113X,LDLR:NM_000527:exon4:c.C460T:p.Q154X,LDLR:NM_001195798:exon4:c.C460T:p.Q154X 19p13.2 . . . . . . . . 0.057 N 1 A . . . . . . . 10.832 36 0.997 0.996 D . . . . 0.672 0 5.6 0.871 0.888 0.312 0.048 18.374 Deleterious (FATHMM)
1746 19 11105407 C A Pathogenic/Likely pathogenic LDLR . . . . . . . . . . 19 11105407 11105407 C A exonic LDLR . stopgain LDLR:NM_001195799:exon3:c.C378A:p.C126X,LDLR:NM_000527:exon4:c.C501A:p.C167X,LDLR:NM_001195798:exon4:c.C501A:p.C167X 19p13.2 . rs752596535 . . . . . . 0.000 D 1 A . . . . . . . 7.093 33 0.982 0.908 D . . . . 0.672 0 -3.96 -0.032 -1.540 0.452 0.015 12.223 Deleterious (FATHMM)
1747 19 11105408 G C Pathogenic/Likely pathogenic LDLR . . . . . . . . . . 19 11105408 11105408 G C exonic LDLR . nonsynonymous SNV LDLR:NM_001195799:exon3:c.G379C:p.D127H,LDLR:NM_000527:exon4:c.G502C:p.D168H,LDLR:NM_001195798:exon4:c.G502C:p.D168H 19p13.2 . . 0.001 D 1.0 D 1.0 D 0.000 D 1 D 4.615 H -5.09 D -6.36 D 0.983 5.693 26.8 0.994 0.998 D 1.006 D 0.986 D 0.672 0 5.6 0.917 0.994 0.433 0.020 18.374 Deleterious
1748 19 11105425 C A Pathogenic/Likely pathogenic LDLR . . . . . . . . . . 19 11105425 11105425 C A exonic LDLR . stopgain LDLR:NM_001195799:exon3:c.C396A:p.C132X,LDLR:NM_000527:exon4:c.C519A:p.C173X,LDLR:NM_001195798:exon4:c.C519A:p.C173X 19p13.2 . . . . . . . . 0.000 D 1 A . . . . . . . 5.694 26.8 0.981 0.864 D . . . . 0.672 0 -3.7 -0.379 -0.915 0.226 0.002 11.98 Deleterious (FATHMM)
1749 19 11105436 C T Pathogenic/Likely pathogenic, not provided LDLR . . . . . . . . . . 19 11105436 11105436 C T exonic LDLR . nonsynonymous SNV LDLR:NM_001195799:exon3:c.C407T:p.S136L,LDLR:NM_000527:exon4:c.C530T:p.S177L,LDLR:NM_001195798:exon4:c.C530T:p.S177L 19p13.2 . rs121908026 0.038 D 1.0 D 1.0 D 0.000 D 1 D 3.48 M -4.55 D -5.42 D 0.971 6.176 28.6 0.999 0.996 D 1.094 D 0.969 D 0.672 0 5.6 0.871 0.888 0.928 0.390 18.374 Deleterious
1750 19 11105457 G A Pathogenic/Likely pathogenic LDLR . . . . . . . . . . 19 11105457 11105457 G A exonic LDLR . nonsynonymous SNV LDLR:NM_001195799:exon3:c.G428A:p.C143Y,LDLR:NM_000527:exon4:c.G551A:p.C184Y,LDLR:NM_001195798:exon4:c.G551A:p.C184Y 19p13.2 . rs121908039 0.002 D 1.0 D 1.0 D 0.000 D 1 D 4.055 H -8.0 D -9.28 D 0.902 5.330 25.8 0.983 0.999 D 0.915 D 0.998 D 0.672 0 5.6 0.917 0.994 0.007 0.006 18.374 Deleterious
1751 19 11105470 C G Pathogenic/Likely pathogenic LDLR . . . . . . . . . . 19 11105470 11105470 C G exonic LDLR . stopgain LDLR:NM_001195799:exon3:c.C441G:p.Y147X,LDLR:NM_000527:exon4:c.C564G:p.Y188X,LDLR:NM_001195798:exon4:c.C564G:p.Y188X 19p13.2 . rs121908034 . . . . . . 0.000 N 1 A . . . . . . . 3.730 23.3 0.909 0.728 D . . . . 0.672 0 0.135 -0.006 -0.429 0.001 0.000 4.450 Deleterious (FATHMM)
1752 19 11105495 T C Pathogenic/Likely pathogenic, not provided LDLR . . . . . . . . . . 19 11105495 11105495 T C exonic LDLR . nonsynonymous SNV LDLR:NM_001195799:exon3:c.T466C:p.C156R,LDLR:NM_000527:exon4:c.T589C:p.C197R,LDLR:NM_001195798:exon4:c.T589C:p.C197R 19p13.2 . rs730882085 0.0 D 1.0 D 0.995 D 0.000 D 1 D 4.61 H -6.07 D -9.01 D 0.884 4.628 24.5 0.992 0.995 D 0.955 D 0.991 D 0.672 0 5.6 0.991 1.007 0.257 0.237 14.757 Deleterious
1753 19 11105496 G A Pathogenic/Likely pathogenic LDLR . . . . . . . . . . 19 11105496 11105496 G A exonic LDLR . nonsynonymous SNV LDLR:NM_001195799:exon3:c.G467A:p.C156Y,LDLR:NM_000527:exon4:c.G590A:p.C197Y,LDLR:NM_001195798:exon4:c.G590A:p.C197Y 19p13.2 . rs376459828 0.0 D 1.0 D 0.997 D 0.000 D 1 D 4.61 H -6.07 D -8.77 D 0.92 4.854 24.9 0.982 0.998 D 0.946 D 0.991 D 0.672 0 4.55 0.917 0.994 0.272 0.246 15.566 Deleterious
1754 19 11105567 G T Pathogenic/Likely pathogenic LDLR . . . . . . . . . . 19 11105567 11105567 G T exonic LDLR . nonsynonymous SNV LDLR:NM_001195799:exon3:c.G538T:p.D180Y,LDLR:NM_000527:exon4:c.G661T:p.D221Y,LDLR:NM_001195798:exon4:c.G661T:p.D221Y 19p13.2 . . 0.0 D 1.0 D 1.0 D 0.000 D 1 D 4.59 H -5.36 D -8.26 D 0.986 6.500 31 0.994 0.997 D 0.987 D 0.988 D 0.672 0 5.6 0.917 0.994 0.574 0.589 18.374 Deleterious
1755 19 11105568 A G Pathogenic/Likely pathogenic, not provided LDLR . . . . . . . . . . 19 11105568 11105568 A G exonic LDLR . nonsynonymous SNV LDLR:NM_001195799:exon3:c.A539G:p.D180G,LDLR:NM_000527:exon4:c.A662G:p.D221G,LDLR:NM_001195798:exon4:c.A662G:p.D221G 19p13.2 7.7e-05 rs373822756 0.001 D 1.0 D 1.0 D 0.000 D 1 D 4.24 H -5.26 D -6.43 D 0.967 6.158 28.5 0.999 0.996 D 1.034 D 0.983 D 0.672 0 5.6 1.062 1.136 0.743 0.772 14.757 Deleterious
1756 19 11105570 T C Pathogenic/Likely pathogenic LDLR . . . . . . . . . . 19 11105570 11105570 T C exonic LDLR . nonsynonymous SNV LDLR:NM_001195799:exon3:c.T541C:p.C181R,LDLR:NM_000527:exon4:c.T664C:p.C222R,LDLR:NM_001195798:exon4:c.T664C:p.C222R 19p13.2 . rs577934998 0.0 D 1.0 D 1.0 D 0.000 D 1 D 4.69 H -5.53 D -11.02 D 0.999 5.654 26.7 0.997 0.995 D 0.920 D 0.998 D 0.672 0 5.6 0.991 1.007 0.921 0.937 14.757 Deleterious
1757 19 11105576 G A Pathogenic/Likely pathogenic LDLR . . . . . . . . . . 19 11105576 11105576 G A exonic LDLR . nonsynonymous SNV LDLR:NM_001195799:exon3:c.G547A:p.D183N,LDLR:NM_000527:exon4:c.G670A:p.D224N,LDLR:NM_001195798:exon4:c.G670A:p.D224N 19p13.2 . rs387906303 0.037 D 0.996 D 0.994 D 0.000 D 1 D 2.63 M -4.36 D -4.19 D 0.308 6.608 32 0.999 0.996 D 1.082 D 0.980 D 0.672 0 5.6 0.917 0.994 0.998 0.997 18.374 Deleterious
1758 19 11105587 C G Pathogenic/Likely pathogenic LDLR . . . . . . . . . . 19 11105587 11105587 C G exonic LDLR . nonsynonymous SNV LDLR:NM_001195799:exon3:c.C558G:p.D186E,LDLR:NM_000527:exon4:c.C681G:p.D227E,LDLR:NM_001195798:exon4:c.C681G:p.D227E 19p13.2 . rs121908028 0.001 D 1.0 D 1.0 D 0.000 D 1 D 3.98 H -5.54 D -3.68 D 0.927 5.135 25.4 0.995 0.833 D 1.075 D 0.978 D 0.672 0 -0.195 -0.514 -0.356 0.927 0.690 8.441 Deleterious
1759 19 11105588 G T Pathogenic/Likely pathogenic LDLR . . . . . . . . . . 19 11105588 11105588 G T exonic LDLR . stopgain LDLR:NM_001195799:exon3:c.G559T:p.E187X,LDLR:NM_000527:exon4:c.G682T:p.E228X,LDLR:NM_001195798:exon4:c.G682T:p.E228X 19p13.2 . rs121908029 . . . . . . 0.000 D 1 A . . . . . . . 13.480 42 0.997 0.997 D . . . . 0.672 0 5.6 0.917 0.994 0.929 0.685 18.374 Deleterious (FATHMM)
1760 19 11105588 G A Pathogenic/Likely pathogenic LDLR . . . . . . . . . . 19 11105588 11105588 G A exonic LDLR . nonsynonymous SNV LDLR:NM_001195799:exon3:c.G559A:p.E187K,LDLR:NM_000527:exon4:c.G682A:p.E228K,LDLR:NM_001195798:exon4:c.G682A:p.E228K 19p13.2 . rs121908029 0.001 D 1.0 D 0.999 D 0.000 D 1 D 4.3 H -5.18 D -3.67 D 0.976 7.073 33 0.999 0.996 D 1.030 D 0.984 D 0.672 0 5.6 0.917 0.994 0.929 0.685 18.374 Deleterious
1761 19 11105599 C A Pathogenic/Likely pathogenic LDLR . . . . . . . . . . 19 11105599 11105599 C A exonic LDLR . stopgain LDLR:NM_001195799:exon3:c.C570A:p.C190X,LDLR:NM_000527:exon4:c.C693A:p.C231X,LDLR:NM_001195798:exon4:c.C693A:p.C231X 19p13.2 . rs121908035 . . . . . . 0.000 D 1 A . . . . . . . 6.479 30 0.983 0.800 D . . . . 0.672 0 -2.43 -0.275 -0.867 0.753 0.001 10.618 Deleterious (FATHMM)
1762 19 11106588 G A Pathogenic/Likely pathogenic LDLR . . . . . . . . . . 19 11106588 11106588 G A exonic LDLR . nonsynonymous SNV LDLR:NM_001195799:exon4:c.G595A:p.E199K,LDLR:NM_001195803:exon4:c.G337A:p.E113K,LDLR:NM_000527:exon5:c.G718A:p.E240K,LDLR:NM_001195798:exon5:c.G718A:p.E240K 19p13.2 . rs768563000 0.085 T 0.975 D 0.922 D 0.000 D 1 D 2.295 M -3.86 D -2.32 N 0.911 6.566 31 0.999 0.994 D 0.989 D 0.902 D 0.672 0 4.05 0.917 0.937 0.989 0.943 13.764 Deleterious
1763 19 11107390 A G Pathogenic LDLR . . . . . . . . . . 19 11107390 11107390 A G splicing LDLR NM_001195799:exon5:c.695-2A>G,NM_001195803:exon5:c.437-2A>G,NM_001195798:exon6:c.818-2A>G,NM_000527:exon6:c.818-2A>G,NM_001195800:exon4:c.314-2A>G . . 19p13.2 . . . . . . . . . . 1 D . . . . . . . 3.208 22.7 0.985 0.962 D . . . . 0.257 0 5.33 1.062 1.069 0.952 0.135 14.280 Deleterious (FATHMM)
1764 19 11107491 C T Pathogenic/Likely pathogenic LDLR . . . . . . . . . . 19 11107491 11107491 C T exonic LDLR . nonsynonymous SNV LDLR:NM_001195800:exon4:c.C413T:p.S138L,LDLR:NM_001195799:exon5:c.C794T:p.S265L,LDLR:NM_001195803:exon5:c.C536T:p.S179L,LDLR:NM_000527:exon6:c.C917T:p.S306L,LDLR:NM_001195798:exon6:c.C917T:p.S306L 19p13.2 . rs11547917 0.001 D 1.0 D 0.994 D 0.000 D 1 D 3.625 H -4.55 D -4.89 D 0.955 6.656 32 0.999 0.973 D 1.089 D 0.970 D 0.672 0 5.33 0.871 0.837 0.996 0.979 17.789 Deleterious
1765 19 11107513 C A Pathogenic LDLR . . . . . . . . . . 19 11107513 11107513 C A exonic LDLR . stopgain LDLR:NM_001195800:exon4:c.C435A:p.C145X,LDLR:NM_001195799:exon5:c.C816A:p.C272X,LDLR:NM_001195803:exon5:c.C558A:p.C186X,LDLR:NM_000527:exon6:c.C939A:p.C313X,LDLR:NM_001195798:exon6:c.C939A:p.C313X 19p13.2 . . . . . . . . 0.000 D 1 A . . . . . . . 5.204 25.5 0.967 0.485 N . . . . 0.672 0 -4.35 -0.604 -1.708 0.807 0.440 13.551 Deleterious (DANN)
1766 19 11110697 G A Pathogenic/Likely pathogenic LDLR . . . . . . . . . . 19 11110697 11110697 G A exonic LDLR . nonsynonymous SNV LDLR:NM_001195800:exon5:c.G482A:p.C161Y,LDLR:NM_001195799:exon6:c.G863A:p.C288Y,LDLR:NM_001195803:exon6:c.G605A:p.C202Y,LDLR:NM_000527:exon7:c.G986A:p.C329Y,LDLR:NM_001195798:exon7:c.G986A:p.C329Y 19p13.2 . rs761954844 0.0 D 1.0 D 1.0 D 0.000 D 1 D 4.715 H -5.57 D -10.55 D 0.997 5.279 25.7 0.986 0.996 D 1.121 D 1.000 D 0.672 0 5.4 0.897 0.947 0.998 0.793 17.946 Deleterious
1767 19 11110744 C T Pathogenic LDLR . . . . . . . . . . 19 11110744 11110744 C T exonic LDLR . stopgain LDLR:NM_001195800:exon5:c.C529T:p.Q177X,LDLR:NM_001195799:exon6:c.C910T:p.Q304X,LDLR:NM_001195803:exon6:c.C652T:p.Q218X,LDLR:NM_000527:exon7:c.C1033T:p.Q345X,LDLR:NM_001195798:exon7:c.C1033T:p.Q345X 19p13.2 . . . . . . . . 0.305 N 1 A . . . . . . . 10.574 36 0.997 0.779 D . . . . 0.672 0 5.4 0.853 0.847 0.427 0.251 12.982 Deleterious (FATHMM)
1768 19 11110759 C T Pathogenic LDLR . . . . . . . . . . 19 11110759 11110759 C T exonic LDLR . stopgain LDLR:NM_001195800:exon5:c.C544T:p.R182X,LDLR:NM_001195799:exon6:c.C925T:p.R309X,LDLR:NM_001195803:exon6:c.C667T:p.R223X,LDLR:NM_000527:exon7:c.C1048T:p.R350X,LDLR:NM_001195798:exon7:c.C1048T:p.R350X 19p13.2 . rs769737896 . . . . . . 0.915 N 1 A . . . . . . . 10.314 36 0.997 0.943 D . . . . 0.672 0 1.76 -0.074 0.847 0.052 0.220 6.744 Deleterious (FATHMM)
1769 19 11110772 G A Pathogenic LDLR . . . . . . . . . . 19 11110772 11110772 G A splicing LDLR NM_001195799:exon6:c.937+1G>A,NM_001195803:exon6:c.679+1G>A,NM_001195798:exon7:c.1060+1G>A,NM_000527:exon7:c.1060+1G>A,NM_001195800:exon5:c.556+1G>A . . 19p13.2 . . . . . . . . . . 1 D . . . . . . . 5.373 25.9 0.995 0.998 D . . . . 0.257 0 5.19 0.897 0.947 0.615 0.770 17.488 Deleterious (FATHMM)
1770 19 11111629 C A Pathogenic/Likely pathogenic LDLR . . . . . . . . . . 19 11111629 11111629 C A exonic LDLR . stopgain LDLR:NM_001195800:exon6:c.C672A:p.C224X,LDLR:NM_001195799:exon7:c.C1053A:p.C351X,LDLR:NM_001195803:exon7:c.C795A:p.C265X,LDLR:NM_000527:exon8:c.C1176A:p.C392X,LDLR:NM_001195798:exon8:c.C1176A:p.C392X 19p13.2 . rs750649426 . . . . . . 0.000 D 1 A . . . . . . . 11.661 38 0.995 0.986 D . . . . 0.672 0 3.46 0.871 0.807 0.998 0.956 10.645 Deleterious (FATHMM)
1771 19 11113268 G A Pathogenic/Likely pathogenic LDLR . . . . . . . . . . 19 11113268 11113268 G A intronic LDLR . . . 19p13.2 . rs765696008 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . probably Tolerated (Intron)
1772 19 11113292 C G Pathogenic/Likely pathogenic LDLR . . . . . . . . . . 19 11113292 11113292 C G exonic LDLR . nonsynonymous SNV LDLR:NM_001195800:exon7:c.C697G:p.L233V,LDLR:NM_001195799:exon8:c.C1078G:p.L360V,LDLR:NM_001195803:exon8:c.C820G:p.L274V,LDLR:NM_000527:exon9:c.C1201G:p.L401V,LDLR:NM_001195798:exon9:c.C1201G:p.L401V 19p13.2 0.0002 rs146200173 0.01 D 0.921 P 0.869 P 0.000 D 1 D 2.105 M -3.03 D -2.93 D 0.867 4.893 24.9 0.995 0.995 D 0.858 D 0.835 D 0.672 0 4.87 0.871 0.847 0.606 0.210 16.792 Deleterious
1773 19 11113307 C T Pathogenic/Likely pathogenic LDLR . . . . . . . . . . 19 11113307 11113307 C T exonic LDLR . nonsynonymous SNV LDLR:NM_001195800:exon7:c.C712T:p.R238W,LDLR:NM_001195799:exon8:c.C1093T:p.R365W,LDLR:NM_001195803:exon8:c.C835T:p.R279W,LDLR:NM_000527:exon9:c.C1216T:p.R406W,LDLR:NM_001195798:exon9:c.C1216T:p.R406W 19p13.2 . rs121908043 0.0 D 1.0 D 1.0 D 0.000 D 1.000 D 3.25 M -2.91 D -7.32 D 0.897 6.748 32 0.999 0.972 D 1.029 D 0.897 D 0.672 0 4.87 0.871 0.847 0.997 0.180 16.792 Deleterious
1774 19 11113337 C T Pathogenic/Likely pathogenic, not provided LDLR . . . . . . . . . . 19 11113337 11113337 C T exonic LDLR . nonsynonymous SNV LDLR:NM_001195800:exon7:c.C742T:p.R248W,LDLR:NM_001195799:exon8:c.C1123T:p.R375W,LDLR:NM_001195803:exon8:c.C865T:p.R289W,LDLR:NM_000527:exon9:c.C1246T:p.R416W,LDLR:NM_001195798:exon9:c.C1246T:p.R416W 19p13.2 . rs570942190 0.002 D 1.0 D 0.993 D 0.000 D 1 D 2.365 M -2.8 D -6.64 D 0.924 6.122 28.3 0.999 0.942 D 0.801 D 0.828 D 0.672 0 3.82 0.871 -0.011 0.992 0.373 13.366 Deleterious
1775 19 11113376 G A Pathogenic/Likely pathogenic LDLR . . . . . . . . . . 19 11113376 11113376 G A exonic LDLR . nonsynonymous SNV LDLR:NM_001195800:exon7:c.G781A:p.V261M,LDLR:NM_001195799:exon8:c.G1162A:p.V388M,LDLR:NM_001195803:exon8:c.G904A:p.V302M,LDLR:NM_000527:exon9:c.G1285A:p.V429M,LDLR:NM_001195798:exon9:c.G1285A:p.V429M 19p13.2 . rs28942078 0.021 D 1.0 D 0.976 D 0.000 D 1 D 2.88 M -2.97 D -2.18 N 0.817 6.453 29.9 0.999 0.965 D 0.962 D 0.881 D 0.672 0 4.87 0.917 0.944 0.950 0.907 16.792 Deleterious
1776 19 11113382 G A Pathogenic/Likely pathogenic LDLR . . . . . . . . . . 19 11113382 11113382 G A exonic LDLR . nonsynonymous SNV LDLR:NM_001195800:exon7:c.G787A:p.A263T,LDLR:NM_001195799:exon8:c.G1168A:p.A390T,LDLR:NM_001195803:exon8:c.G910A:p.A304T,LDLR:NM_000527:exon9:c.G1291A:p.A431T,LDLR:NM_001195798:exon9:c.G1291A:p.A431T 19p13.2 . rs28942079 0.001 D 0.998 D 0.936 D 0.000 D 1 D 2.63 M -2.92 D -3.78 D 0.889 7.150 34 0.999 0.989 D 0.948 D 0.868 D 0.672 0 4.87 0.917 0.944 0.911 0.903 16.792 Deleterious
1777 19 11113413 T C Pathogenic/Likely pathogenic LDLR . . . . . . . . . . 19 11113413 11113413 T C exonic LDLR . nonsynonymous SNV LDLR:NM_001195800:exon7:c.T818C:p.I273T,LDLR:NM_001195799:exon8:c.T1199C:p.I400T,LDLR:NM_001195803:exon8:c.T941C:p.I314T,LDLR:NM_000527:exon9:c.T1322C:p.I441T,LDLR:NM_001195798:exon9:c.T1322C:p.I441T 19p13.2 . . 0.001 D 0.961 D 0.94 D 0.027 N 1 D 3.745 H -4.28 D -4.13 D 0.919 5.672 26.7 0.998 0.987 D 1.097 D 0.960 D 0.672 0 4.87 0.991 0.956 0.993 0.995 13.464 Deleterious
1778 19 11113451 T A Pathogenic/Likely pathogenic LDLR . . . . . . . . . . 19 11113451 11113451 T A splicing LDLR NM_001195799:exon8:c.1235+2T>A,NM_001195803:exon8:c.977+2T>A,NM_001195798:exon9:c.1358+2T>A,NM_000527:exon9:c.1358+2T>A,NM_001195800:exon7:c.854+2T>A . . 19p13.2 . rs193922567 . . . . . . . . 1 A . . . . . . . 4.535 24.3 0.993 0.995 D . . . . 0.070 0 4.87 0.991 0.956 0.983 0.976 13.464 Deleterious (FATHMM)
1779 19 11113534 G A Pathogenic/Likely pathogenic LDLR|MIR6886 . . . . . . . . . . 19 11113534 11113534 G A ncRNA_exonic;splicing MIR6886;LDLR NM_001195799:exon9:c.1236-1G>A,NM_001195803:exon9:c.978-1G>A,NM_001195798:exon10:c.1359-1G>A,NM_000527:exon10:c.1359-1G>A,NM_001195800:exon8:c.855-1G>A . . 19p13.2 7.7e-05 rs139617694 . . . . . . . . 1 D . . . . . . . 4.044 23.7 0.994 0.993 D . . . . 0.257 0 4.55 0.917 0.944 0.054 0.424 16.108 Deleterious (FATHMM)
1780 19 11113590 G T Pathogenic/Likely pathogenic, not provided LDLR . . . . . . . . . . 19 11113590 11113590 G T exonic LDLR . nonsynonymous SNV LDLR:NM_001195800:exon8:c.G910T:p.D304Y,LDLR:NM_001195799:exon9:c.G1291T:p.D431Y,LDLR:NM_001195803:exon9:c.G1033T:p.D345Y,LDLR:NM_000527:exon10:c.G1414T:p.D472Y,LDLR:NM_001195798:exon10:c.G1414T:p.D472Y 19p13.2 . rs730882102 0.048 D 0.971 D 0.96 D 0.069 N 1 N 3.11 M -4.3 D -4.01 D 0.878 4.327 24.0 0.989 0.839 D 0.669 D 0.937 D 0.672 0 2.55 0.917 0.944 0.305 0.461 6.033 Deleterious
1781 19 11113643 C G Pathogenic/Likely pathogenic LDLR . . . . . . . . . . 19 11113643 11113643 C G exonic LDLR . stopgain LDLR:NM_001195800:exon8:c.C963G:p.Y321X,LDLR:NM_001195799:exon9:c.C1344G:p.Y448X,LDLR:NM_001195803:exon9:c.C1086G:p.Y362X,LDLR:NM_000527:exon10:c.C1467G:p.Y489X,LDLR:NM_001195798:exon10:c.C1467G:p.Y489X 19p13.2 7.7e-05 rs370777955 . . . . . . 0.000 D 1 A . . . . . . . 12.289 39 0.997 0.984 D . . . . 0.672 0 4.72 0.871 0.844 0.998 0.992 10.188 Deleterious (FATHMM)
1782 19 11113644 T C Pathogenic/Likely pathogenic LDLR . . . . . . . . . . 19 11113644 11113644 T C exonic LDLR . nonsynonymous SNV LDLR:NM_001195800:exon8:c.T964C:p.W322R,LDLR:NM_001195799:exon9:c.T1345C:p.W449R,LDLR:NM_001195803:exon9:c.T1087C:p.W363R,LDLR:NM_000527:exon10:c.T1468C:p.W490R,LDLR:NM_001195798:exon10:c.T1468C:p.W490R 19p13.2 . rs730880130 0.0 D 1.0 D 1.0 D 0.000 D 1 D 4.155 H -6.75 D -13.25 D 0.993 6.078 28.1 0.996 0.990 D 0.938 D 0.994 D 0.672 0 4.72 0.991 0.956 0.998 0.989 13.182 Deleterious
1783 19 11113743 G A Pathogenic/Likely pathogenic, not provided LDLR . . . . . . . . . . 19 11113743 11113743 G A exonic LDLR . nonsynonymous SNV LDLR:NM_001195800:exon8:c.G1063A:p.V355M,LDLR:NM_001195799:exon9:c.G1444A:p.V482M,LDLR:NM_001195803:exon9:c.G1186A:p.V396M,LDLR:NM_000527:exon10:c.G1567A:p.V523M,LDLR:NM_001195798:exon10:c.G1567A:p.V523M 19p13.2 . rs28942080 0.002 D 0.999 D 0.986 D 0.000 D 1.000 D 3.605 H -4.12 D -1.83 N 0.865 6.462 29.9 0.999 0.990 D 1.105 D 0.954 D 0.672 0 4.72 0.917 0.944 0.961 0.148 16.450 Deleterious
1784 19 11113764 T A Pathogenic/Likely pathogenic LDLR . . . . . . . . . . 19 11113764 11113764 T A splicing LDLR NM_001195799:exon9:c.1463+2T>A,NM_001195803:exon9:c.1205+2T>A,NM_001195798:exon10:c.1586+2T>A,NM_000527:exon10:c.1586+2T>A,NM_001195800:exon8:c.1082+2T>A . . 19p13.2 . . . . . . . . . . 1 D . . . . . . . 3.915 23.5 0.988 0.990 D . . . . 0.161 0 4.72 0.991 0.956 0.663 0.141 13.182 Deleterious (FATHMM)
1785 19 11116106 G A Pathogenic LDLR . . . . . . . . . . 19 11116106 11116106 G A exonic LDLR . stopgain LDLR:NM_001195800:exon9:c.G1095A:p.W365X,LDLR:NM_001195799:exon10:c.G1476A:p.W492X,LDLR:NM_001195803:exon10:c.G1218A:p.W406X,LDLR:NM_000527:exon11:c.G1599A:p.W533X,LDLR:NM_001195798:exon11:c.G1599A:p.W533X 19p13.2 . . . . . . . . 0.000 D 1 A . . . . . . . 14.332 45 0.998 0.989 D . . . . 0.672 0 5.93 0.917 1.035 0.999 0.990 19.110 Deleterious (FATHMM)
1786 19 11116125 G A Pathogenic/Likely pathogenic LDLR . . . . . . . . . . 19 11116125 11116125 G A exonic LDLR . nonsynonymous SNV LDLR:NM_001195800:exon9:c.G1114A:p.A372T,LDLR:NM_001195799:exon10:c.G1495A:p.A499T,LDLR:NM_001195803:exon10:c.G1237A:p.A413T,LDLR:NM_000527:exon11:c.G1618A:p.A540T,LDLR:NM_001195798:exon11:c.G1618A:p.A540T 19p13.2 . rs769370816 0.006 D 1.0 D 1.0 D 0.000 D 1 D 3.31 M -4.55 D -3.75 D 0.913 5.566 26.4 0.997 0.981 D 1.094 D 0.965 D 0.672 0 4.88 0.917 1.035 0.988 0.795 16.037 Deleterious
1787 19 11116153 G A Pathogenic/Likely pathogenic, not provided LDLR . . . . . . . . . . 19 11116153 11116153 G A exonic LDLR . nonsynonymous SNV LDLR:NM_001195800:exon9:c.G1142A:p.G381D,LDLR:NM_001195799:exon10:c.G1523A:p.G508D,LDLR:NM_001195803:exon10:c.G1265A:p.G422D,LDLR:NM_000527:exon11:c.G1646A:p.G549D,LDLR:NM_001195798:exon11:c.G1646A:p.G549D 19p13.2 . rs28941776 0.0 D 0.998 D 0.999 D 0.000 U 1 D 4.085 H -5.52 D -6.6 D 0.903 4.738 24.7 0.997 0.985 D 1.025 D 0.984 D 0.672 0 4.76 0.917 1.035 0.924 0.175 13.854 Deleterious
1788 19 11116193 G A Pathogenic/Likely pathogenic LDLR . . . . . . . . . . 19 11116193 11116193 G A exonic LDLR . stopgain LDLR:NM_001195800:exon9:c.G1182A:p.W394X,LDLR:NM_001195799:exon10:c.G1563A:p.W521X,LDLR:NM_001195803:exon10:c.G1305A:p.W435X,LDLR:NM_000527:exon11:c.G1686A:p.W562X,LDLR:NM_001195798:exon11:c.G1686A:p.W562X 19p13.2 . . . . . . . . 0.000 U 1 A . . . . . . . 13.692 43 0.993 0.989 D . . . . 0.672 0 5.79 0.917 1.035 0.959 0.998 18.797 Deleterious (FATHMM)
1789 19 11116857 A T Pathogenic LDLR . . . . . . . . . . 19 11116857 11116857 A T splicing LDLR NM_001195799:exon11:c.1583-2A>T,NM_001195803:exon11:c.1325-2A>T,NM_001195798:exon12:c.1706-2A>T,NM_000527:exon12:c.1706-2A>T,NM_001195800:exon10:c.1202-2A>T . . 19p13.2 . . . . . . . . . . 1 D . . . . . . . 3.450 23.0 0.987 0.996 D . . . . 0.257 0 5.61 1.062 1.066 0.499 0.095 13.773 Deleterious (FATHMM)
1790 19 11116873 C T Pathogenic/Likely pathogenic, not provided LDLR . . . . . . . . . . 19 11116873 11116873 C T exonic LDLR . nonsynonymous SNV LDLR:NM_001195800:exon10:c.C1216T:p.R406C,LDLR:NM_001195799:exon11:c.C1597T:p.R533C,LDLR:NM_001195803:exon11:c.C1339T:p.R447C,LDLR:NM_000527:exon12:c.C1720T:p.R574C,LDLR:NM_001195798:exon12:c.C1720T:p.R574C 19p13.2 . rs185098634 0.0 D 1.0 D 0.998 D 0.000 D 1 D 3.685 H -4.16 D -7.53 D 0.97 7.369 34 0.999 0.993 D 1.099 D 0.959 D 0.672 0 5.48 0.871 0.836 0.925 0.842 18.139 Deleterious
1791 19 11116884 G T Pathogenic/Likely pathogenic LDLR . . . . . . . . . . 19 11116884 11116884 G T exonic LDLR . nonsynonymous SNV LDLR:NM_001195800:exon10:c.G1227T:p.W409C,LDLR:NM_001195799:exon11:c.G1608T:p.W536C,LDLR:NM_001195803:exon11:c.G1350T:p.W450C,LDLR:NM_000527:exon12:c.G1731T:p.W577C,LDLR:NM_001195798:exon12:c.G1731T:p.W577C 19p13.2 . . 0.0 D 1.0 D 1.0 D 0.001 D 1 D 3.865 H -6.75 D -12.41 D 0.982 5.887 27.4 0.992 0.991 D 0.942 D 0.994 D 0.672 0 5.48 0.917 0.935 1.000 0.976 18.139 Deleterious
1792 19 11116898 T C Pathogenic/Likely pathogenic LDLR . . . . . . . . . . 19 11116898 11116898 T C exonic LDLR . nonsynonymous SNV LDLR:NM_001195800:exon10:c.T1241C:p.L414P,LDLR:NM_001195799:exon11:c.T1622C:p.L541P,LDLR:NM_001195803:exon11:c.T1364C:p.L455P,LDLR:NM_000527:exon12:c.T1745C:p.L582P,LDLR:NM_001195798:exon12:c.T1745C:p.L582P 19p13.2 . . 0.002 D 1.0 D 0.997 D 0.000 D 1 D 3.57 H -4.05 D -6.62 D 0.966 4.946 25.0 0.999 0.974 D 1.089 D 0.948 D 0.672 0 5.48 0.991 0.946 0.996 0.892 10.338 Deleterious
1793 19 11116900 C T Pathogenic/Likely pathogenic LDLR . . . . . . . . . . 19 11116900 11116900 C T exonic LDLR . nonsynonymous SNV LDLR:NM_001195800:exon10:c.C1243T:p.H415Y,LDLR:NM_001195799:exon11:c.C1624T:p.H542Y,LDLR:NM_001195803:exon11:c.C1366T:p.H456Y,LDLR:NM_000527:exon12:c.C1747T:p.H583Y,LDLR:NM_001195798:exon12:c.C1747T:p.H583Y 19p13.2 . rs730882109 0.009 D 1.0 D 1.0 D 0.000 D 1 D 2.505 M -2.85 D -5.84 D 0.963 5.280 25.7 0.997 0.985 D 0.887 D 0.855 D 0.672 0 5.48 0.871 0.836 0.997 0.905 18.139 Deleterious
1794 19 11116928 G A Pathogenic/Likely pathogenic, not provided LDLR . . . . . . . . . . 19 11116928 11116928 G A exonic LDLR . nonsynonymous SNV LDLR:NM_001195800:exon10:c.G1271A:p.G424E,LDLR:NM_001195799:exon11:c.G1652A:p.G551E,LDLR:NM_001195803:exon11:c.G1394A:p.G465E,LDLR:NM_000527:exon12:c.G1775A:p.G592E,LDLR:NM_001195798:exon12:c.G1775A:p.G592E 19p13.2 0.0002 rs137929307 0.001 D 0.988 D 0.965 D 0.000 D 1 D 3.415 M -5.59 D -7.45 D 0.983 5.057 25.2 0.991 0.990 D 1.045 D 0.984 D 0.672 0 5.48 0.917 0.931 0.817 0.136 18.139 Deleterious
1795 19 11116937 G A Pathogenic/Likely pathogenic, not provided LDLR . . . . . . . . . . 19 11116937 11116937 G A exonic LDLR . nonsynonymous SNV LDLR:NM_001195800:exon10:c.G1280A:p.R427Q,LDLR:NM_001195799:exon11:c.G1661A:p.R554Q,LDLR:NM_001195803:exon11:c.G1403A:p.R468Q,LDLR:NM_000527:exon12:c.G1784A:p.R595Q,LDLR:NM_001195798:exon12:c.G1784A:p.R595Q 19p13.2 . rs201102492 0.001 D 1.0 D 0.996 D 0.000 D 1 D 3.335 M -4.37 D -3.89 D 0.961 6.775 32 0.999 0.990 D 1.101 D 0.961 D 0.672 0 5.48 0.917 0.931 0.342 0.643 18.139 Deleterious
1796 19 11120091 G A Pathogenic/Likely pathogenic LDLR . . . . . . . . . . 19 11120091 11120091 G A splicing LDLR NM_001195799:exon12:c.1723-1G>A,NM_001195803:exon12:c.1465-1G>A,NM_001195798:exon13:c.1846-1G>A,NM_000527:exon13:c.1846-1G>A,NM_001195800:exon11:c.1342-1G>A . . 19p13.2 . . . . . . . . . . 1 D . . . . . . . 5.120 25.4 0.995 0.994 D . . . . 0.257 0 5.37 0.917 1.032 0.874 0.864 17.942 Deleterious (FATHMM)
1797 19 11120143 C T Pathogenic/Likely pathogenic LDLR . . . . . . . . . . 19 11120143 11120143 C T exonic LDLR . nonsynonymous SNV LDLR:NM_001195800:exon11:c.C1393T:p.R465C,LDLR:NM_001195799:exon12:c.C1774T:p.R592C,LDLR:NM_001195803:exon12:c.C1516T:p.R506C,LDLR:NM_000527:exon13:c.C1897T:p.R633C,LDLR:NM_001195798:exon13:c.C1897T:p.R633C 19p13.2 . rs746118995 0.0 D 0.996 D 0.928 D 0.006 N 1 D 2.9 M -3.96 D -6.65 D 0.962 6.877 33 0.999 0.969 D 1.057 D 0.932 D 0.672 0 5.37 0.871 0.925 0.995 0.979 12.976 Deleterious
1798 19 11120144 G A Pathogenic/Likely pathogenic LDLR . . . . . . . . . . 19 11120144 11120144 G A exonic LDLR . nonsynonymous SNV LDLR:NM_001195800:exon11:c.G1394A:p.R465H,LDLR:NM_001195799:exon12:c.G1775A:p.R592H,LDLR:NM_001195803:exon12:c.G1517A:p.R506H,LDLR:NM_000527:exon13:c.G1898A:p.R633H,LDLR:NM_001195798:exon13:c.G1898A:p.R633H 19p13.2 . rs754536745 0.001 D 1.0 D 0.995 D 0.006 N 1.000 D 2.9 M -3.95 D -4.0 D 0.923 5.914 27.5 0.999 0.986 D 1.069 D 0.936 D 0.672 0 4.33 0.917 1.036 0.995 0.980 13.01 Deleterious
1799 19 11120382 G A Pathogenic/Likely pathogenic LDLR . . . . . . . . . . 19 11120382 11120382 G A exonic LDLR . nonsynonymous SNV LDLR:NM_001195800:exon12:c.G1496A:p.C499Y,LDLR:NM_001195799:exon13:c.G1877A:p.C626Y,LDLR:NM_000527:exon14:c.G2000A:p.C667Y,LDLR:NM_001195798:exon14:c.G2000A:p.C667Y 19p13.2 . rs28942083 0.0 D 1.0 D 1.0 D 0.000 D 1 D 4.33 H -5.56 D -10.33 D 0.99 6.427 29.7 0.998 0.997 D 0.982 D 0.989 D 0.672 0 5.45 0.917 1.048 0.988 0.993 18.056 Deleterious
1800 19 11120411 T C Pathogenic/Likely pathogenic LDLR . . . . . . . . . . 19 11120411 11120411 T C exonic LDLR . nonsynonymous SNV LDLR:NM_001195800:exon12:c.T1525C:p.C509R,LDLR:NM_001195799:exon13:c.T1906C:p.C636R,LDLR:NM_000527:exon14:c.T2029C:p.C677R,LDLR:NM_001195798:exon14:c.T2029C:p.C677R 19p13.2 . rs775092314 0.0 D 1.0 D 1.0 D 0.000 D 1 D 4.535 H -6.92 D -11.27 D 0.993 5.108 25.3 0.991 0.994 D 0.901 D 0.996 D 0.672 0 5.3 0.991 1.061 0.980 0.867 14.235 Deleterious
1801 19 11120425 C A Pathogenic/Likely pathogenic LDLR . . . . . . . . . . 19 11120425 11120425 C A exonic LDLR . stopgain LDLR:NM_001195800:exon12:c.C1539A:p.C513X,LDLR:NM_001195799:exon13:c.C1920A:p.C640X,LDLR:NM_000527:exon14:c.C2043A:p.C681X,LDLR:NM_001195798:exon14:c.C2043A:p.C681X 19p13.2 . rs121908031 . . . . . . 0.000 D 1 A . . . . . . . 7.582 34 0.977 0.913 D . . . . 0.672 0 -4.88 -0.032 -0.756 0.945 0.374 18.023 Deleterious (FATHMM)
1802 19 11120435 C T Pathogenic/Likely pathogenic LDLR . . . . . . . . . . 19 11120435 11120435 C T exonic LDLR . nonsynonymous SNV LDLR:NM_001195800:exon12:c.C1549T:p.P517S,LDLR:NM_001195799:exon13:c.C1930T:p.P644S,LDLR:NM_000527:exon14:c.C2053T:p.P685S,LDLR:NM_001195798:exon14:c.C2053T:p.P685S 19p13.2 . rs2569548 0.004 D 1.0 D 0.997 D 0.000 D 1 D 2.485 M -4.3 D -7.5 D 0.898 5.801 27.1 0.999 0.994 D 1.095 D 0.947 D 0.672 0 5.3 0.871 0.935 0.892 0.044 17.733 Deleterious
1803 19 11120436 C T Pathogenic/Likely pathogenic, not provided LDLR . . . . . . . . . . 19 11120436 11120436 C T exonic LDLR . nonsynonymous SNV LDLR:NM_001195800:exon12:c.C1550T:p.P517L,LDLR:NM_001195799:exon13:c.C1931T:p.P644L,LDLR:NM_000527:exon14:c.C2054T:p.P685L,LDLR:NM_001195798:exon14:c.C2054T:p.P685L 19p13.2 0.0002 rs28942084 0.0 D 1.0 D 0.999 D 0.000 D 1 D 3.27 M -4.35 D -9.38 D 0.937 6.568 31 0.999 0.994 D 1.102 D 0.960 D 0.672 0 5.3 0.871 0.935 0.886 0.041 17.733 Deleterious
1804 19 11120438 C T Pathogenic LDLR . . . . . . . . . . 19 11120438 11120438 C T exonic LDLR . stopgain LDLR:NM_001195800:exon12:c.C1552T:p.Q518X,LDLR:NM_001195799:exon13:c.C1933T:p.Q645X,LDLR:NM_000527:exon14:c.C2056T:p.Q686X,LDLR:NM_001195798:exon14:c.C2056T:p.Q686X 19p13.2 . . . . . . . . 0.006 N 1 A . . . . . . . 10.988 37 0.993 0.990 D . . . . 0.672 0 4.27 0.871 0.935 0.908 0.059 12.836 Deleterious (FATHMM)
1805 19 11120475 G T Pathogenic/Likely pathogenic LDLR . . . . . . . . . . 19 11120475 11120475 G T exonic LDLR . nonsynonymous SNV LDLR:NM_001195800:exon12:c.G1589T:p.C530F,LDLR:NM_001195799:exon13:c.G1970T:p.C657F,LDLR:NM_000527:exon14:c.G2093T:p.C698F,LDLR:NM_001195798:exon14:c.G2093T:p.C698F 19p13.2 . . 0.001 D 1.0 D 0.989 D 0.000 D 1 D 4.51 H -10.09 D -9.86 D 0.987 5.731 26.9 0.993 0.996 D 1.095 D 1.000 D 0.672 0 5.3 0.917 1.048 0.996 0.720 17.733 Deleterious
1806 19 11120522 G T Pathogenic/Likely pathogenic LDLR . . . . . . . . . . 19 11120522 11120522 G T exonic LDLR . stopgain LDLR:NM_001195800:exon12:c.G1636T:p.E546X,LDLR:NM_001195799:exon13:c.G2017T:p.E673X,LDLR:NM_000527:exon14:c.G2140T:p.E714X,LDLR:NM_001195798:exon14:c.G2140T:p.E714X 19p13.2 . . . . . . . . 0.693 U 1 A . . . . . . . 13.754 43 0.997 0.995 D . . . . 0.672 0 5.17 0.917 1.048 0.464 0.975 17.433 Deleterious (FATHMM)
1807 19 11120523 G A Pathogenic/Likely pathogenic LDLR . . . . . . . . . . 19 11120523 11120523 G A splicing LDLR NM_001195799:exon13:c.2017+1G>A,NM_001195798:exon14:c.2140+1G>A,NM_000527:exon14:c.2140+1G>A,NM_001195800:exon12:c.1636+1G>A . . 19p13.2 7.7e-05 rs145787161 . . . . . . . . 1 D . . . . . . . 5.232 25.6 0.995 0.996 D . . . . 0.284 0 5.17 0.917 1.048 0.442 0.949 17.433 Deleterious (FATHMM)
1808 19 11123248 C T Pathogenic/Likely pathogenic LDLR . . . . . . . . . . 19 11123248 11123248 C T exonic LDLR . stopgain LDLR:NM_001195800:exon13:c.C1711T:p.Q571X,LDLR:NM_001195803:exon13:c.C1681T:p.Q561X,LDLR:NM_001195799:exon14:c.C2092T:p.Q698X,LDLR:NM_000527:exon15:c.C2215T:p.Q739X,LDLR:NM_001195798:exon15:c.C2215T:p.Q739X 19p13.2 . . . . . . . . 0.003 U 1 A . . . . . . . 8.245 35 0.923 0.088 N . . . . 0.672 0 0.372 0.598 -0.648 0.006 0.001 4.825
1809 19 11129671 G A Pathogenic LDLR . . . . . . . . . . 19 11129671 11129671 G A splicing LDLR NM_001195799:exon16:c.2424+1G>A,NM_001195803:exon15:c.2013+1G>A,NM_001195798:exon17:c.2547+1G>A,NM_000527:exon17:c.2547+1G>A,NM_001195800:exon15:c.2043+1G>A . . 19p13.2 . . . . . . . . . . 1 D . . . . . . . 4.946 25.0 0.995 0.989 D . . . . 0.257 0 4.82 0.917 0.911 0.979 0.970 17.023 Deleterious (FATHMM)
1810 19 12657482 C A Pathogenic/Likely pathogenic MAN2B1 . . . . . . . . . . 19 12657482 12657482 C A exonic MAN2B1 . synonymous SNV MAN2B1:NM_000528:exon11:c.C1383T:p.Y461Y,MAN2B1:NM_001173498:exon11:c.C1380T:p.Y460Y 19p13.13 . rs775200333 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
1811 19 12891965 C T Pathogenic/Likely pathogenic GCDH . . . . . . . . . . 19 12891965 12891965 C T exonic GCDH . nonsynonymous SNV GCDH:NM_000159:exon4:c.C262T:p.R88C,GCDH:NM_013976:exon4:c.C262T:p.R88C 19p13.13 0.0002 rs142967670 0.0 D 1.0 D 0.998 D 0.000 D 1 D 4.505 H -5.34 D -7.19 D 0.944 7.973 35 0.999 0.842 D 0.927 D 0.994 D 0.767 0 5.31 0.871 0.932 0.995 0.997 16.461 Deleterious
1812 19 12893564 C T Pathogenic/Likely pathogenic GCDH . . . . . . . . . . 19 12893564 12893564 C T exonic GCDH . nonsynonymous SNV GCDH:NM_000159:exon6:c.C416T:p.S139L,GCDH:NM_013976:exon6:c.C416T:p.S139L 19p13.13 7.7e-05 rs139851890 0.0 D 1.0 D 1.0 D 0.000 D 1 D 2.585 M -6.3 D -5.64 D 0.972 7.573 34 0.999 0.980 D 1.036 D 0.985 D 0.732 0 5.19 0.871 0.848 0.936 0.634 16.567 Deleterious
1813 19 12893630 G A Pathogenic/Likely pathogenic GCDH . . . . . . . . . . 19 12893630 12893630 G A exonic GCDH . nonsynonymous SNV GCDH:NM_000159:exon6:c.G482A:p.R161Q,GCDH:NM_013976:exon6:c.G482A:p.R161Q 19p13.13 . rs777201305 0.05 D 0.865 P 0.406 B 0.002 N 0.883 N 2.295 M -6.55 D -2.12 N 0.673 4.742 24.7 0.999 0.709 D 1.043 D 0.963 D 0.707 0 2.04 -0.011 0.064 0.989 0.984 7.729 Deleterious
1814 19 12896249 G C Pathogenic/Likely pathogenic GCDH . . . . . . . . . . 19 12896249 12896249 G C exonic GCDH . nonsynonymous SNV GCDH:NM_000159:exon8:c.G680C:p.R227P,GCDH:NM_013976:exon8:c.G680C:p.R227P 19p13.13 0.0002 rs121434373 0.008 D 0.361 B 0.116 B 0.015 N 0.999 A 3.485 M -4.23 D -3.38 D 0.813 3.462 23.0 0.982 0.871 D 0.644 D 0.863 D 0.707 0 0.235 -0.045 0.953 0.970 1.000 1.044 Deleterious
1815 19 12897818 G A Pathogenic GCDH . . . . . . . . . . 19 12897818 12897818 G A exonic GCDH . nonsynonymous SNV GCDH:NM_000159:exon11:c.G1198A:p.V400M,GCDH:NM_013976:exon11:c.G1198A:p.V400M 19p13.13 . rs121434372 0.0 D 1.0 D 0.995 D 0.000 D 1.000 A 3.325 M -4.1 D -2.46 N 0.879 5.397 26.0 0.999 0.928 D 1.135 D 0.943 D 0.707 0 5.75 0.917 1.048 1.000 0.996 10.81 Deleterious
1816 19 12897824 C T Pathogenic GCDH . . . . . . . . . . 19 12897824 12897824 C T exonic GCDH . nonsynonymous SNV GCDH:NM_000159:exon11:c.C1204T:p.R402W,GCDH:NM_013976:exon11:c.C1204T:p.R402W 19p13.13 0.0005 rs121434369 0.0 D 1.0 D 1.0 D 0.000 D 1 A 4.845 H -4.37 D -7.52 D 0.981 8.370 35 0.999 0.960 D 1.055 D 0.973 D 0.707 0 5.45 0.871 0.935 1.000 0.998 12.134 Deleterious
1817 19 12899486 C T Pathogenic GCDH|SYCE2 . . . . . . . . . . 19 12899486 12899486 C T exonic GCDH . nonsynonymous SNV GCDH:NM_000159:exon12:c.C1262T:p.A421V 19p13.13 . rs121434367 0.0 D 1.0 D 0.983 D 0.000 D 1 A 3.42 M -3.9 D -3.7 D 0.986 7.665 35 0.999 0.995 D 1.087 D 0.943 D 0.732 0 5.45 0.871 0.848 0.996 0.995 17.150 Deleterious
1818 19 13025513 G T Pathogenic/Likely pathogenic NFIX . . . . . . . . . . 19 13025513 13025513 G T exonic NFIX . stopgain NFIX:NM_001271043:exon2:c.G544T:p.E182X,NFIX:NM_001271044:exon2:c.G496T:p.E166X,NFIX:NM_002501:exon2:c.G520T:p.E174X 19p13.13 . rs786205515 . . . . . . 0.000 D 1 A . . . . . . . 12.147 38 0.997 0.990 D . . . . 0.660 0 5.38 0.917 1.045 1.000 1.000 17.904 Deleterious (FATHMM)
1819 19 13913639 G T Pathogenic CC2D1A . . . . . . . . . . 19 13913639 13913639 G T splicing CC2D1A NM_017721:exon6:c.748+1G>T . . 19p13.12 . . . . . . . . . . 1 D . . . . . . . 4.105 23.7 0.992 0.909 D . . . . 0.116 0 3.44 0.917 0.970 0.596 0.946 9.866 Deleterious (FATHMM)
1820 19 17837148 C T Pathogenic/Likely pathogenic JAK3 . . . . . . . . . . 19 17837148 17837148 C T exonic JAK3 . synonymous SNV JAK3:NM_000215:exon13:c.C1767A:p.G589G 19p13.11 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
1821 19 18162974 G A Pathogenic/Likely pathogenic PIK3R2 . . . . . . . . . . 19 18162974 18162974 G A exonic PIK3R2 . nonsynonymous SNV PIK3R2:NM_005027:exon10:c.G1117A:p.G373R 19p13.11 . rs587776934 0.0 D 1.0 D 1.0 D 0.000 D 1 D 2.695 M -0.18 T -7.38 D 0.895 5.888 27.4 0.999 0.993 D 0.089 D 0.464 T 0.707 0 3.69 0.917 0.877 0.999 0.764 15.323 Tolerated
1822 19 32862521 G A Pathogenic/Likely pathogenic SLC7A9 . . . . . . . . . . 19 32862521 32862521 G A exonic SLC7A9 . nonsynonymous SNV SLC7A9:NM_001126335:exon5:c.G544T:p.A182S,SLC7A9:NM_001243036:exon5:c.G544T:p.A182S,SLC7A9:NM_014270:exon5:c.G544T:p.A182S 19q13.11 . rs79389353 0.062 T 0.286 B 0.318 B 0.000 D 0.989 D 2.47 M -2.57 D -2.01 N 0.392 3.797 23.4 0.993 0.700 D 0.320 D 0.733 D 0.554 0 5.54 0.871 0.935 0.955 0.018 19.831 Deleterious
1823 19 35033654 C G Pathogenic/Likely pathogenic SCN1B . . . . . . . . . . 19 35033654 35033654 C G exonic SCN1B . nonsynonymous SNV SCN1B:NM_001037:exon3:c.C363G:p.C121W,SCN1B:NM_199037:exon3:c.C363G:p.C121W 19q13.11 7.7e-05 rs104894718 0.0 D 1.0 D 0.998 D 0.000 D 1 D 1.745 L -2.6 D -9.57 D 0.978 6.115 28.3 0.994 0.939 D 0.587 D 0.722 D 0.707 0 3.17 -0.192 0.049 0.995 0.998 7.271 Deleterious
1824 19 35845430 G T Pathogenic/Likely pathogenic NPHS1 . . . . . . . . . . 19 35845430 35845430 G T exonic NPHS1 . nonsynonymous SNV NPHS1:NM_004646:exon14:c.G1868A:p.C623Y 19q13.12 . . 0.039 D 1.0 D 1.0 D 0.000 D 1.000 D 2.605 M -5.91 D -9.39 D 0.97 5.649 26.7 0.996 0.909 D 1.047 D 0.982 D 0.598 0 4.56 0.853 0.934 0.347 0.741 15.207 Deleterious
1825 19 38457545 C T Pathogenic, not provided, risk factor RYR1 . . . . . . . . . . 19 38457545 38457545 C T exonic RYR1 . nonsynonymous SNV RYR1:NM_000540:exon17:c.C1840T:p.R614C,RYR1:NM_001042723:exon17:c.C1840T:p.R614C 19q13.2 7.7e-05 rs118192172 0.005 D 1.0 D 0.999 D 0.000 U 1.000 D 2.89 M -3.86 D -7.37 D 0.932 7.746 35 0.999 0.888 D 1.012 D 0.918 D 0.707 0 3.76 -0.058 0.852 0.933 0.979 11.066 Deleterious
1826 19 38586150 C G Pathogenic/Likely pathogenic RYR1 . . . . . . . . . . 19 38586150 38586150 C G exonic RYR1 . nonsynonymous SNV RYR1:NM_001042723:exon103:c.C14913G:p.F4971L,RYR1:NM_000540:exon104:c.C14928G:p.F4976L 19q13.2 . rs368874586 0.0 D 0.996 D 0.988 D 0.000 U 0.993 D 3.73 H -6.07 D -4.98 D 0.9 2.742 21.0 0.688 0.369 N 1.080 D 0.984 D 0.706 0 -6.39 -1.024 -2.909 0.970 0.064 16.131 Deleterious
1827 19 40395495 C T Pathogenic PRX . . . . . . . . . . 19 40395495 40395495 C T exonic PRX . synonymous SNV PRX:NM_181882:exon7:c.C2857A:p.R953R 19q13.2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
1828 19 41410817 G A Pathogenic BCKDHA . . . . . . . . . . 19 41410817 41410817 G A splicing BCKDHA NM_000709:exon2:c.288+1G>A,NM_001164783:exon2:c.288+1G>A . . 19q13.2 . rs398123496 . . . . . . . . 1 D . . . . . . . 5.848 27.3 0.995 0.997 D . . . . 0.322 0 5.42 0.866 1.048 0.991 0.825 17.984 Deleterious (FATHMM)
1829 19 41422370 G C Pathogenic BCKDHA . . . . . . . . . . 19 41422370 41422370 G C exonic BCKDHA . nonsynonymous SNV BCKDHA:NM_000709:exon6:c.G853C:p.A285P,BCKDHA:NM_001164783:exon6:c.G853C:p.A285P 19q13.2 . rs398123508 0.003 D 1.0 D 0.997 D 0.000 D 1 D 4.53 H -3.95 D -4.49 D 0.975 5.171 25.5 0.997 0.996 D 1.079 D 0.967 D 0.732 0 4.91 0.917 1.045 0.909 0.490 17.026 Deleterious
1830 19 41422643 G A Pathogenic BCKDHA . . . . . . . . . . 19 41422643 41422643 G A exonic BCKDHA . nonsynonymous SNV BCKDHA:NM_000709:exon7:c.G868A:p.G290R,BCKDHA:NM_001164783:exon7:c.G865A:p.G289R 19q13.2 . rs137852871 0.001 D 1.0 D 0.995 D 0.000 D 1 A 3.915 H -4.45 D -5.17 D 0.986 6.720 32 0.999 0.987 D 1.090 D 0.968 D 0.732 0 5.69 0.917 1.048 0.991 0.643 18.590 Deleterious
1831 19 41422754 G A Pathogenic/Likely pathogenic BCKDHA . . . . . . . . . . 19 41422754 41422754 G A exonic BCKDHA . nonsynonymous SNV BCKDHA:NM_000709:exon7:c.G979A:p.E327K,BCKDHA:NM_001164783:exon7:c.G976A:p.E326K 19q13.2 . rs398123515 0.001 D 1.0 D 0.999 D 0.000 D 1 D 4.885 H -4.7 D -3.8 D 0.995 7.899 35 0.999 0.990 D 1.020 D 0.982 D 0.707 0 5.69 0.917 1.048 0.996 0.915 18.590 Deleterious
1832 19 41424504 G A Pathogenic BCKDHA . . . . . . . . . . 19 41424504 41424504 G A exonic BCKDHA . nonsynonymous SNV BCKDHA:NM_000709:exon9:c.G1234A:p.V412M,BCKDHA:NM_001164783:exon9:c.G1231A:p.V411M 19q13.2 . rs398123490 0.007 D 1.0 D 0.994 D 0.000 D 1 D 3.38 M -5.69 D -2.67 D 0.898 6.417 29.7 0.999 0.963 D 1.064 D 0.981 D 0.707 0 4.26 0.917 1.048 0.997 0.703 12.615 Deleterious
1833 19 41424582 T A Pathogenic BCKDHA . . . . . . . . . . 19 41424582 41424582 T A exonic BCKDHA . nonsynonymous SNV BCKDHA:NM_000709:exon9:c.T1312A:p.Y438N,BCKDHA:NM_001164783:exon9:c.T1309A:p.Y437N 19q13.2 0.0002 rs137852870 0.0 D 1.0 D 0.998 D 0.000 D 1 A 3.285 M -5.57 D -8.3 D 0.882 6.091 28.2 0.992 0.962 D 1.047 D 0.983 D 0.713 0 5.45 0.991 1.061 1.000 0.990 14.498 Deleterious
1834 19 41970275 G A Pathogenic ATP1A3 . . . . . . . . . . 19 41970275 41970275 G A exonic ATP1A3 . stopgain ATP1A3:NM_001256213:exon18:c.G2485T:p.E829X,ATP1A3:NM_001256214:exon18:c.G2491T:p.E831X,ATP1A3:NM_152296:exon18:c.G2452T:p.E818X 19q13.2 . . . . . . . . 0.000 D 1 A . . . . . . . 13.523 42 0.997 0.971 D . . . . 0.626 0 3.88 0.868 0.925 0.871 0.920 13.752 Deleterious (FATHMM)
1835 19 41970405 G A Pathogenic ATP1A3 . . . . . . . . . . 19 41970405 41970405 G A exonic ATP1A3 . nonsynonymous SNV ATP1A3:NM_001256213:exon17:c.G2434T:p.D812Y,ATP1A3:NM_001256214:exon17:c.G2440T:p.D814Y,ATP1A3:NM_152296:exon17:c.G2401T:p.D801Y 19q13.2 . rs80356537 0.0 D 1.0 D 1.0 D 0.000 D 1 A 4.38 H -3.95 D -6.21 D 0.988 7.412 34 0.995 0.966 D 1.084 D 0.962 D 0.706 0 3.82 0.868 0.850 0.997 0.997 13.626 Deleterious
1836 19 43511454 G A Pathogenic/Likely pathogenic ETHE1 . . . . . . . . . . 19 43511454 43511454 G A exonic ETHE1 . nonsynonymous SNV ETHE1:NM_014297:exon4:c.G488T:p.R163L 19q13.31 . . 0.0 D 1.0 D 0.997 D 0.000 D 1 D 4.095 H -3.98 D -6.76 D 0.983 8.089 35 0.998 0.967 D 1.084 D 0.962 D 0.706 0 5.04 0.598 0.920 0.990 0.982 16.347 Deleterious
1837 19 46756276 C A Pathogenic FKRP . . . . . . . . . . 19 46756276 46756276 C A exonic FKRP . nonsynonymous SNV FKRP:NM_001039885:exon4:c.C826A:p.L276I,FKRP:NM_024301:exon4:c.C826A:p.L276I 19q13.32 0.0005 rs28937900 0.065 T 0.851 P 0.3 B 0.000 D 0.999 A 1.245 L -5.99 D -0.85 N 0.716 3.116 22.6 0.969 0.965 D 1.188 D 0.932 D 0.696 0 4.16 0.871 0.739 0.948 0.993 15.372 Deleterious
1838 19 46756837 A G Pathogenic FKRP . . . . . . . . . . 19 46756837 46756837 A G exonic FKRP . nonsynonymous SNV FKRP:NM_001039885:exon4:c.A1387G:p.N463D,FKRP:NM_024301:exon4:c.A1387G:p.N463D 19q13.32 . rs121908110 0.0 D 0.999 D 0.991 D 0.000 D 1 A 2.11 M -6.27 D -4.31 D 0.368 5.428 26.1 0.997 0.955 D 1.060 D 0.981 D 0.660 0 5.44 1.062 1.140 0.999 0.973 14.473 Deleterious
1839 19 50323685 G A Pathogenic KCNC3 . . . . . . . . . . 19 50323685 50323685 G A exonic KCNC3 . nonsynonymous SNV KCNC3:NM_004977:exon2:c.G1268T:p.R423L 19q13.33 . . 0.0 D 1.0 D 1.0 D 0.004 U 1 D 2.89 M -5.06 D -6.23 D 0.797 6.947 33 0.998 0.971 D 1.083 D 0.968 D 0.706 0 3.04 0.787 0.737 0.988 0.935 13.319 Deleterious
1840 19 55151856 G A Pathogenic/Likely pathogenic TNNI3 . . . . . . . . . . 19 55151856 55151856 G A exonic TNNI3 . unknown UNKNOWN 19q13.42 . rs727504275 0.001 D 0.999 D 0.993 D 0.000 D 0.999 D 2.65 M -4.73 D -5.87 D 0.767 7.893 35 0.999 0.976 D 1.103 D 0.963 D 0.732 0 4.63 0.871 0.011 0.998 0.998 16.675 Deleterious
1841 19 55151892 G A Pathogenic/Likely pathogenic TNNI3 . . . . . . . . . . 19 55151892 55151892 G A exonic TNNI3 . unknown UNKNOWN 19q13.42 . rs104894729 0.001 D 0.999 D 0.993 D 0.000 D 1.000 D 2.695 M -4.6 D -6.49 D 0.741 7.783 35 0.998 0.977 D 1.103 D 0.956 D 0.732 0 4.46 0.871 0.884 0.995 1.000 16.238 Deleterious
1842 19 55151910 G A Pathogenic TNNI3 . . . . . . . . . . 19 55151910 55151910 G A exonic TNNI3 . unknown UNKNOWN 19q13.42 . . 0.25 T 0.317 B 0.059 B 0.000 D 0.996 D 0.46 N -3.52 D -2.31 N 0.371 3.834 23.4 0.992 0.882 D 0.255 D 0.646 D 0.745 0 4.46 0.871 0.888 1.000 0.757 16.238 Deleterious
1843 19 55154035 G A Pathogenic TNNI3 . . . . . . . . . . 19 55154035 55154035 G A exonic TNNI3 . unknown UNKNOWN 19q13.42 . . . . . . . . 0.041 N 1 D . . . . . . . 14.139 44 0.997 0.943 D . . . . 0.706 0 4.72 0.871 0.887 0.995 0.992 16.802 Deleterious (FATHMM)
1844 19 55154070 G A Pathogenic/Likely pathogenic TNNI3 . . . . . . . . . . 19 55154070 55154070 G A exonic TNNI3 . unknown UNKNOWN 19q13.42 . . 0.001 D 0.984 D 0.849 P 0.000 D 1.000 D 3.3 M -4.5 D -6.4 D 0.828 7.682 35 0.999 0.883 D 1.102 D 0.959 D 0.706 0 4.72 0.871 0.887 0.994 0.998 16.802 Deleterious
1845 19 55154071 C T Pathogenic/Likely pathogenic TNNI3 . . . . . . . . . . 19 55154071 55154071 C T exonic TNNI3 . unknown UNKNOWN 19q13.42 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .
1846 19 55154094 G A Pathogenic/Likely pathogenic TNNI3 . . . . . . . . . . 19 55154094 55154094 G A exonic TNNI3 . unknown UNKNOWN 19q13.42 . . 0.001 D 0.456 P 0.129 B 0.001 N 0.996 D 0.695 N -2.96 D -3.94 D 0.331 5.847 27.3 0.998 0.870 D 0.026 D 0.536 D 0.706 0 4.72 0.871 0.887 0.997 0.995 7.681 Deleterious
1847 19 55154109 C T Pathogenic/Likely pathogenic TNNI3 . . . . . . . . . . 19 55154109 55154109 C T exonic TNNI3 . unknown UNKNOWN 19q13.42 . . 0.001 D 0.074 B 0.047 B 0.000 N 1.000 D 3.1 M -3.16 D -4.53 D 0.29 6.461 29.9 0.996 0.977 D 0.615 D 0.807 D 0.706 0 3.63 0.917 0.993 0.990 0.994 13.040 Deleterious
1848 19 55154145 G A Pathogenic/Likely pathogenic TNNI3 . . . . . . . . . . 19 55154145 55154145 G A exonic TNNI3 . unknown UNKNOWN 19q13.42 . . 0.001 D 0.955 P 0.678 P 0.000 D 0.999 D 2.485 M -3.61 D -5.67 D 0.61 7.375 34 0.998 0.853 D 0.955 D 0.870 D 0.706 0 4.72 0.871 0.887 0.992 0.944 16.802 Deleterious
1849 19 55154146 C T Pathogenic/Likely pathogenic TNNI3 . . . . . . . . . . 19 55154146 55154146 C T exonic TNNI3 . unknown UNKNOWN 19q13.42 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .
1850 19 55154157 G A Pathogenic/Likely pathogenic TNNI3 . . . . . . . . . . 19 55154157 55154157 G A exonic TNNI3 . unknown UNKNOWN 19q13.42 . . 0.001 D 0.909 P 0.649 P 0.002 N 0.968 D 2.675 M -3.47 D -5.67 D 0.717 7.376 34 0.998 0.520 D 0.901 D 0.853 D 0.706 0 4.72 0.871 0.887 1.000 0.995 10.523 Deleterious
1851 19 55154172 G A Pathogenic/Likely pathogenic TNNI3 . . . . . . . . . . 19 55154172 55154172 G A exonic TNNI3 . unknown UNKNOWN 19q13.42 . . 0.007 D 0.955 P 0.75 P 0.000 D 0.995 D 2.635 M -3.78 D -4.77 D 0.777 7.153 34 0.997 0.556 D 1.019 D 0.902 D 0.706 0 4.72 0.871 0.887 0.980 0.846 16.802 Deleterious
1852 20 3918695 G A Pathogenic PANK2 . . . . . . . . . . 20 3918695 3918695 G A exonic PANK2 . nonsynonymous SNV PANK2:NM_024960:exon6:c.G688A:p.G230R,PANK2:NM_153638:exon6:c.G1561A:p.G521R,PANK2:NM_153640:exon6:c.G688A:p.G230R 20p13 0.0002 rs137852959 0.0 D 1.0 D 1.0 D 0.000 D 1 A 3.65 H -8.82 D -7.8 D 0.995 6.931 33 0.999 0.992 D 0.910 D 0.998 D 0.707 0 5.12 0.917 1.048 1.000 0.998 16.099 Deleterious
1853 20 10656450 C T Pathogenic JAG1 . . . . . . . . . . 20 10656450 10656450 C T exonic JAG1 . synonymous SNV JAG1:NM_000214:exon5:c.C703A:p.R235R 20p12.2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
1854 20 18510875 C T Pathogenic SEC23B . . . . . . . . . . 20 18510875 18510875 C T exonic SEC23B . nonsynonymous SNV SEC23B:NM_001172745:exon2:c.C40T:p.R14W,SEC23B:NM_001172746:exon2:c.C40T:p.R14W,SEC23B:NM_006363:exon2:c.C40T:p.R14W,SEC23B:NM_032985:exon2:c.C40T:p.R14W,SEC23B:NM_032986:exon2:c.C40T:p.R14W 20p11.23 0.0002 rs121918222 0.055 T 0.999 D 0.899 P 0.000 D 1 A 2.57 M -1.68 D -5.36 D 0.845 7.293 34 0.999 0.937 D 0.625 D 0.681 D 0.707 0 4.12 0.871 0.935 1.000 0.998 13.957 Deleterious
1855 20 44406195 C T Pathogenic HNF4A . . . . . . . . . . 20 44406195 44406195 C T exonic HNF4A . nonsynonymous SNV HNF4A:NM_000457:exon2:c.C253T:p.R85W,HNF4A:NM_001030003:exon2:c.C187T:p.R63W,HNF4A:NM_001030004:exon2:c.C187T:p.R63W,HNF4A:NM_175914:exon2:c.C187T:p.R63W,HNF4A:NM_178849:exon2:c.C253T:p.R85W,HNF4A:NM_178850:exon2:c.C253T:p.R85W,HNF4A:NM_001258355:exon3:c.C232T:p.R78W,HNF4A:NM_001287182:exon3:c.C178T:p.R60W,HNF4A:NM_001287183:exon3:c.C178T:p.R60W,HNF4A:NM_001287184:exon3:c.C178T:p.R60W 20q13.12 . rs587777732 0.0 D 1.0 D 1.0 D 0.000 D 1 D 4.5 H -4.62 D -6.89 D 0.981 7.314 34 0.999 0.816 D 1.054 D 0.974 D 0.497 0 4.21 -0.025 -0.036 0.998 0.999 12.164 Deleterious
1856 20 63413556 C T Pathogenic KCNQ2 . . . . . . . . . . 20 63413556 63413556 C T exonic KCNQ2 . synonymous SNV KCNQ2:NM_004518:exon13:c.C1573A:p.R525R,KCNQ2:NM_172106:exon14:c.C1603A:p.R535R,KCNQ2:NM_172108:exon14:c.C1564A:p.R522R,KCNQ2:NM_172107:exon15:c.C1657A:p.R553R 20q13.33 . rs759584387 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
1857 20 63415086 C T Pathogenic KCNQ2 . . . . . . . . . . 20 63415086 63415086 C T exonic KCNQ2 . synonymous SNV KCNQ2:NM_004518:exon11:c.C1258A:p.R420R,KCNQ2:NM_172106:exon12:c.C1288A:p.R430R,KCNQ2:NM_172108:exon12:c.C1252A:p.R418R,KCNQ2:NM_172107:exon13:c.C1342A:p.R448R 20q13.33 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
1858 20 63439644 C T Pathogenic KCNQ2 . . . . . . . . . . 20 63439644 63439644 C T exonic KCNQ2 . nonsynonymous SNV KCNQ2:NM_004518:exon6:c.C881A:p.A294E,KCNQ2:NM_172106:exon6:c.C881A:p.A294E,KCNQ2:NM_172107:exon6:c.C881A:p.A294E,KCNQ2:NM_172108:exon6:c.C881A:p.A294E,KCNQ2:NM_172109:exon6:c.C881A:p.A294E 20q13.33 . . 0.0 D 0.999 D 0.994 D 0.000 D 1.000 D 3.415 M -5.03 D -3.36 D 0.836 5.196 25.5 0.995 0.913 D 1.070 D 0.976 D 0.696 0 4.01 0.917 0.935 0.159 0.451 16.480 Deleterious
1859 20 63442429 G A Pathogenic/Likely pathogenic KCNQ2 . . . . . . . . . . 20 63442429 63442429 G A exonic KCNQ2 . nonsynonymous SNV KCNQ2:NM_004518:exon5:c.G793T:p.A265S,KCNQ2:NM_172106:exon5:c.G793T:p.A265S,KCNQ2:NM_172107:exon5:c.G793T:p.A265S,KCNQ2:NM_172108:exon5:c.G793T:p.A265S,KCNQ2:NM_172109:exon5:c.G793T:p.A265S 20q13.33 . . 0.0 D 0.743 P 0.557 P 0.015 N 1 D 1.47 L -4.37 D -2.68 D 0.698 5.895 27.4 0.996 0.941 D 0.960 D 0.877 D 0.713 0 3.38 0.871 0.921 0.992 0.245 15.174 Deleterious
1860 20 63444711 G A Pathogenic/Likely pathogenic KCNQ2 . . . . . . . . . . 20 63444711 63444711 G A exonic KCNQ2 . nonsynonymous SNV KCNQ2:NM_004518:exon4:c.G638T:p.R213L,KCNQ2:NM_172106:exon4:c.G638T:p.R213L,KCNQ2:NM_172107:exon4:c.G638T:p.R213L,KCNQ2:NM_172108:exon4:c.G638T:p.R213L,KCNQ2:NM_172109:exon4:c.G638T:p.R213L 20q13.33 . . 0.0 D 1.0 D 0.999 D 0.003 N 1 D 3.21 M -5.18 D -6.23 D 0.911 7.010 33 0.999 0.965 D 1.078 D 0.975 D 0.696 0 4.05 0.871 0.792 0.978 0.671 16.577 Deleterious
1861 20 63444748 C T Pathogenic KCNQ2 . . . . . . . . . . 20 63444748 63444748 C T exonic KCNQ2 . nonsynonymous SNV KCNQ2:NM_004518:exon4:c.C601A:p.R201S,KCNQ2:NM_172106:exon4:c.C601A:p.R201S,KCNQ2:NM_172107:exon4:c.C601A:p.R201S,KCNQ2:NM_172108:exon4:c.C601A:p.R201S,KCNQ2:NM_172109:exon4:c.C601A:p.R201S 20q13.33 . . 0.001 D 1.0 D 0.996 D 0.001 N 1.000 D 2.725 M -5.32 D -4.32 D 0.974 6.339 29.3 0.998 0.810 D 1.020 D 0.984 D 0.696 0 2.84 -0.045 0.885 0.880 0.996 12.583 Deleterious
1862 21 31667359 T C Pathogenic SOD1 . . . . . . . . . . 21 31667359 31667359 T C exonic SOD1 . nonsynonymous SNV SOD1:NM_000454:exon4:c.T341C:p.I114T 21q22.11 . rs121912441 0.004 D 0.999 D 0.993 D 0.000 D 1 D 3.57 H -6.47 D -4.73 D 0.952 5.512 26.3 0.998 0.967 D 0.972 D 0.991 D 0.722 0 4.73 0.970 1.061 0.998 1.000 14.658 Deleterious
1863 21 34370639 T C Pathogenic/Likely pathogenic, not provided KCNE2 . . . . . . . . . . 21 34370639 34370639 T C exonic KCNE2 . nonsynonymous SNV KCNE2:NM_172201:exon2:c.T161C:p.M54T 21q22.11 0.0002 rs74315447 0.005 D 0.959 D 0.551 P 0.000 D 0.993 A 1.5 L -2.98 D -3.28 D 0.909 4.817 24.8 0.989 0.897 D 0.601 D 0.726 D 0.549 0 5.66 0.991 1.061 1.000 1.000 15.564 Deleterious
1864 21 34449409 G A Pathogenic/Likely pathogenic, not provided KCNE1 . . . . . . . . . . 21 34449409 34449409 G A exonic KCNE1 . nonsynonymous SNV KCNE1:NM_001127670:exon2:c.G226T:p.D76Y,KCNE1:NM_001270404:exon2:c.G226T:p.D76Y,KCNE1:NM_001127668:exon3:c.G226T:p.D76Y,KCNE1:NM_001127669:exon3:c.G226T:p.D76Y,KCNE1:NM_001270402:exon3:c.G226T:p.D76Y,KCNE1:NM_001270403:exon3:c.G226T:p.D76Y,KCNE1:NM_001270405:exon3:c.G226T:p.D76Y,KCNE1:NM_000219:exon4:c.G226T:p.D76Y 21q22.12 . . 0.001 D 1.0 D 0.999 D 0.000 D 0.997 D 2.815 M -3.66 D -7.02 D 0.943 5.440 26.1 0.990 0.959 D 1.022 D 0.911 D 0.554 0 5.16 0.871 0.807 0.975 0.096 13.035 Deleterious
1865 21 37486563 C T Pathogenic DYRK1A . . . . . . . . . . 21 37486563 37486563 C T exonic DYRK1A . stopgain DYRK1A:NM_001396:exon5:c.C613T:p.R205X,DYRK1A:NM_130436:exon5:c.C586T:p.R196X,DYRK1A:NM_130438:exon5:c.C613T:p.R205X,DYRK1A:NM_101395:exon7:c.C613T:p.R205X 21q22.13 . rs724159949 . . . . . . 0.000 D 1 A . . . . . . . 13.056 41 0.998 0.967 D . . . . 0.732 0 5.54 0.871 0.892 1.000 0.998 16.133 Deleterious (FATHMM)
1866 21 37490393 C T Pathogenic/Likely pathogenic DYRK1A . . . . . . . . . . 21 37490393 37490393 C T exonic DYRK1A . nonsynonymous SNV DYRK1A:NM_001396:exon6:c.C883T:p.L295F,DYRK1A:NM_130436:exon6:c.C856T:p.L286F,DYRK1A:NM_130438:exon6:c.C883T:p.L295F,DYRK1A:NM_101395:exon8:c.C883T:p.L295F 21q22.13 . rs797044526 0.001 D 1.0 D 1.0 D 0.000 D 1 D 2.035 M -0.48 T -3.71 D 0.949 6.432 29.8 0.999 0.945 D 0.062 D 0.542 D 0.707 0 5.91 0.871 0.883 1.000 0.998 20.299 Deleterious
1867 21 37505442 C T Pathogenic DYRK1A . . . . . . . . . . 21 37505442 37505442 C T exonic DYRK1A . stopgain DYRK1A:NM_001396:exon9:c.C1399T:p.R467X,DYRK1A:NM_130436:exon9:c.C1372T:p.R458X,DYRK1A:NM_130438:exon9:c.C1399T:p.R467X,DYRK1A:NM_101395:exon11:c.C1399T:p.R467X 21q22.13 . rs797044520 . . . . . . 0.000 D 1 A . . . . . . . 13.345 41 0.998 0.972 D . . . . 0.707 0 4.87 -0.058 0.935 0.998 0.998 15.731 Deleterious (FATHMM)
1868 21 42388436 C A Pathogenic/Likely pathogenic TMPRSS3 . . . . . . . . . . 21 42388436 42388436 C A exonic TMPRSS3 . nonsynonymous SNV TMPRSS3:NM_032404:exon2:c.C32T:p.A11V,TMPRSS3:NM_001256317:exon5:c.C413T:p.A138V,TMPRSS3:NM_024022:exon5:c.C413T:p.A138V,TMPRSS3:NM_032405:exon5:c.C413T:p.A138V 21q22.3 . . 0.044 D 0.958 D 0.72 P 0.005 N 0.980 D 2.6 M -0.89 T -2.91 D 0.252 5.734 26.9 0.999 0.873 D 0.038 D 0.484 T 0.757 0 4.03 -0.044 0.998 0.063 0.497 11.920 Tolerated
1869 21 42388524 C T Pathogenic/Likely pathogenic TMPRSS3 . . . . . . . . . . 21 42388524 42388524 C T exonic TMPRSS3 . synonymous SNV TMPRSS3:NM_001256317:exon5:c.C325A:p.R109R,TMPRSS3:NM_024022:exon5:c.C325A:p.R109R,TMPRSS3:NM_032405:exon5:c.C325A:p.R109R 21q22.3 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
1870 21 43058862 G A Pathogenic CBS . . . . . . . . . . 21 43058862 43058862 G A exonic CBS . nonsynonymous SNV CBS:NM_000071:exon14:c.G1330T:p.D444Y,CBS:NM_001178008:exon14:c.G1330T:p.D444Y,CBS:NM_001178009:exon14:c.G1330T:p.D444Y 21q22.3 . . 0.001 D 1.0 D 0.994 D 0.000 D 1 D 3.605 H -3.25 D -7.17 D 0.945 7.464 34 0.995 0.933 D 0.492 D 0.604 D 0.672 0 4.71 0.871 0.867 0.994 0.977 17.349 Deleterious
1871 21 43058970 A C Pathogenic CBS . . . . . . . . . . 21 43058970 43058970 A C splicing CBS NM_000071:exon14:c.1224-2T>G,NM_001178008:exon14:c.1224-2T>G,NM_001178009:exon14:c.1224-2T>G . . 21q22.3 . . . . . . . . . . 1 D . . . . . . . 4.642 24.5 0.992 0.965 D . . . . 0.257 0 4.51 0.991 0.982 0.963 0.980 13.568 Deleterious (FATHMM)
1872 21 43060528 C T Pathogenic/Likely pathogenic CBS . . . . . . . . . . 21 43060528 43060528 C T exonic CBS . nonsynonymous SNV CBS:NM_000071:exon12:c.C1058A:p.T353K,CBS:NM_001178008:exon12:c.C1058A:p.T353K,CBS:NM_001178009:exon12:c.C1058A:p.T353K 21q22.3 . . 0.002 D 0.07 B 0.062 B 0.004 N 0.971 N 2.08 M -5.58 D -1.12 N 0.651 3.282 22.8 0.943 0.915 D 0.893 D 0.935 D 0.646 0 3.2 0.917 0.824 0.002 0.002 9.789 Deleterious
1873 21 43062311 G A Pathogenic/Likely pathogenic CBS . . . . . . . . . . 21 43062311 43062311 G A exonic CBS . nonsynonymous SNV CBS:NM_000071:exon11:c.G1039T:p.G347C,CBS:NM_001178008:exon11:c.G1039T:p.G347C,CBS:NM_001178009:exon11:c.G1039T:p.G347C 21q22.3 . rs771298943 0.0 D 1.0 D 0.999 D 0.000 D 1 D 4.745 H -4.35 D -8.74 D 0.988 7.224 34 0.998 0.965 D 1.056 D 0.975 D 0.707 0 5.28 0.871 0.870 0.316 0.662 16.724 Deleterious
1874 21 43062344 C T Pathogenic CBS . . . . . . . . . . 21 43062344 43062344 C T exonic CBS . nonsynonymous SNV CBS:NM_000071:exon11:c.C1006A:p.R336S,CBS:NM_001178008:exon11:c.C1006A:p.R336S,CBS:NM_001178009:exon11:c.C1006A:p.R336S 21q22.3 . . 0.001 D 1.0 D 0.996 D 0.000 D 1 D 3.55 H -4.33 D -5.89 D 0.954 6.329 29.3 0.997 0.975 D 1.100 D 0.962 D 0.707 0 5.28 0.917 0.974 0.949 0.981 16.724 Deleterious
1875 21 43062381 G A Pathogenic CBS . . . . . . . . . . 21 43062381 43062381 G A exonic CBS . nonsynonymous SNV CBS:NM_000071:exon11:c.G969T:p.W323C,CBS:NM_001178008:exon11:c.G969T:p.W323C,CBS:NM_001178009:exon11:c.G969T:p.W323C 21q22.3 . . 0.0 D 1.0 D 1.0 D 0.000 D 1 D 2.555 M -5.52 D -11.92 D 0.952 6.655 32 0.994 0.965 D 1.092 D 0.973 D 0.706 0 5.04 0.871 0.870 0.999 0.995 16.198 Deleterious
1876 21 43062988 G A Pathogenic CBS . . . . . . . . . . 21 43062988 43062988 G A exonic CBS . nonsynonymous SNV CBS:NM_000071:exon10:c.G919T:p.G307C,CBS:NM_001178008:exon10:c.G919T:p.G307C,CBS:NM_001178009:exon10:c.G919T:p.G307C 21q22.3 . . 0.001 D 1.0 D 1.0 D 0.000 D 1 D 4.595 H -5.87 D -8.56 D 0.976 7.110 34 0.998 0.944 D 0.946 D 0.991 D 0.707 0 4.67 0.871 0.739 0.994 0.980 15.369 Deleterious
1877 21 43063074 T C Pathogenic CBS . . . . . . . . . . 21 43063074 43063074 T C exonic CBS . nonsynonymous SNV CBS:NM_000071:exon10:c.T833G:p.I278S,CBS:NM_001178008:exon10:c.T833G:p.I278S,CBS:NM_001178009:exon10:c.T833G:p.I278S 21q22.3 . . 0.0 D 0.99 D 0.964 D 0.000 D 0.974 D 3.71 H -4.57 D -5.34 D 0.961 4.478 24.2 0.990 0.945 D 1.079 D 0.960 D 0.706 0 3.52 1.062 0.939 0.927 0.821 8.498 Deleterious
1878 21 43063943 C T Pathogenic CBS . . . . . . . . . . 21 43063943 43063943 C T exonic CBS . nonsynonymous SNV CBS:NM_000071:exon9:c.C785A:p.T262K,CBS:NM_001178008:exon9:c.C785A:p.T262K,CBS:NM_001178009:exon9:c.C785A:p.T262K 21q22.3 . . 0.001 D 1.0 D 0.999 D 0.000 D 1.000 D 3.605 H -4.19 D -4.79 D 0.859 7.189 34 0.995 0.975 D 1.103 D 0.954 D 0.722 0 4.95 0.917 0.824 0.981 0.982 15.997 Deleterious
1879 21 43063958 C T Pathogenic/Likely pathogenic CBS . . . . . . . . . . 21 43063958 43063958 C T exonic CBS . nonsynonymous SNV CBS:NM_000071:exon9:c.C770A:p.T257K,CBS:NM_001178008:exon9:c.C770A:p.T257K,CBS:NM_001178009:exon9:c.C770A:p.T257K 21q22.3 . . 0.0 D 1.0 D 1.0 D 0.000 D 1.000 D 4.68 H -5.81 D -6.0 D 0.751 5.860 27.3 0.990 0.966 D 0.987 D 0.989 D 0.722 0 4.06 0.917 0.824 0.996 0.929 12.621 Deleterious
1880 21 43066264 G A Pathogenic/Likely pathogenic CBS . . . . . . . . . . 21 43066264 43066264 G A exonic CBS . stopgain CBS:NM_000071:exon5:c.G430T:p.E144X,CBS:NM_001178008:exon5:c.G430T:p.E144X,CBS:NM_001178009:exon5:c.G430T:p.E144X 21q22.3 . . . . . . . . 0.000 D 1 A . . . . . . . 9.597 36 0.994 0.879 D . . . . 0.707 0 4.33 0.871 0.785 0.945 0.178 13.829 Deleterious (FATHMM)
1881 21 43066332 G A Pathogenic/Likely pathogenic CBS . . . . . . . . . . 21 43066332 43066332 G A exonic CBS . nonsynonymous SNV CBS:NM_000071:exon5:c.G362T:p.R121L,CBS:NM_001178008:exon5:c.G362T:p.R121L,CBS:NM_001178009:exon5:c.G362T:p.R121L 21q22.3 . rs770095972 0.0 D 1.0 D 1.0 D 0.000 D 1.000 D 4.745 H -5.11 D -6.96 D 0.995 7.320 34 0.998 0.896 D 1.016 D 0.984 D 0.707 0 4.38 0.871 0.785 0.996 0.999 11.816 Deleterious
1882 21 43066369 T C Pathogenic CBS . . . . . . . . . . 21 43066369 43066369 T C exonic CBS . nonsynonymous SNV CBS:NM_000071:exon5:c.T325G:p.C109G,CBS:NM_001178008:exon5:c.T325G:p.C109G,CBS:NM_001178009:exon5:c.T325G:p.C109G 21q22.3 . . 0.0 D 0.999 D 0.997 D 0.000 D 1 D 3.11 M -4.17 D -11.82 D 0.951 5.325 25.8 0.983 0.932 D 1.091 D 0.944 D 0.707 0 5.36 1.062 0.999 1.000 0.999 13.598 Deleterious
1883 21 43068519 G C Pathogenic/Likely pathogenic CBS . . . . . . . . . . 21 43068519 43068519 G C exonic CBS . synonymous SNV CBS:NM_000071:exon4:c.G306G:p.K102K,CBS:NM_001178008:exon4:c.G306G:p.K102K,CBS:NM_001178009:exon4:c.G306G:p.K102K 21q22.3 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
1884 21 43068592 C G Pathogenic/Likely pathogenic CBS . . . . . . . . . . 21 43068592 43068592 C G exonic CBS . synonymous SNV CBS:NM_000071:exon4:c.C233C:p.P78P,CBS:NM_001178008:exon4:c.C233C:p.P78P,CBS:NM_001178009:exon4:c.C233C:p.P78P 21q22.3 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
1885 21 43072048 C T Pathogenic CBS . . . . . . . . . . 21 43072048 43072048 C T exonic CBS . nonsynonymous SNV CBS:NM_000071:exon3:c.C146A:p.P49Q,CBS:NM_001178008:exon3:c.C146A:p.P49Q,CBS:NM_001178009:exon3:c.C146A:p.P49Q 21q22.3 . . 0.04 D 0.674 P 0.383 B 0.000 D 1.000 D 2.56 M -4.45 D -5.48 D 0.778 6.097 28.2 0.991 0.950 D 1.122 D 0.967 D 0.722 0 5.64 0.917 0.877 0.791 0.686 17.497 Deleterious
1886 21 43774297 C T Pathogenic CSTB . . . . . . . . . . 21 43774297 43774297 C T exonic CSTB . synonymous SNV CSTB:NM_000100:exon3:c.C202A:p.R68R 21q22.3 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
1887 21 43774760 G C Pathogenic CSTB . . . . . . . . . . 21 43774760 43774760 G C splicing CSTB NM_000100:exon2:c.67-1C>G . . 21q22.3 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .
1888 21 44287085 C T Pathogenic AIRE . . . . . . . . . . 21 44287085 44287085 C T exonic AIRE . stopgain AIRE:NM_000383:exon3:c.C415T:p.R139X 21q22.3 . rs121434256 . . . . . . 0.217 N 1 A . . . . . . . 7.169 34 0.994 0.076 N . . . . 0.598 0 0.183 -0.048 -0.004 0.015 0.003 5.907 Deleterious (DANN)
1889 21 44289773 C T Pathogenic AIRE . . . . . . . . . . 21 44289773 44289773 C T exonic AIRE . stopgain AIRE:NM_000383:exon6:c.C769T:p.R257X 21q22.3 7.7e-05 rs121434254 . . . . . . 0.130 N 1 A . . . . . . . 9.432 35 0.997 0.619 D . . . . 0.581 0 2.25 0.033 0.881 0.035 0.848 5.466 Deleterious (FATHMM)
1890 21 45989129 G A Pathogenic COL6A1 . . . . . . . . . . 21 45989129 45989129 G A exonic COL6A1 . nonsynonymous SNV COL6A1:NM_001848:exon9:c.G850A:p.G284R 21q22.3 . rs121912938 0.0 D 1.0 D 0.99 D 0.001 U 1 A 3.4 M -6.29 D -6.65 D 0.986 5.199 25.5 0.999 0.992 D 0.986 D 0.988 D 0.696 0 3.6 0.917 0.902 0.971 0.794 15.389 Deleterious
1891 21 45989617 G A Pathogenic COL6A1 . . . . . . . . . . 21 45989617 45989617 G A exonic COL6A1 . nonsynonymous SNV COL6A1:NM_001848:exon10:c.G868A:p.G290R 21q22.3 . rs121912939 0.0 D 1.0 D 1.0 D 0.000 U 1 D 4 H -6.0 D -5.5 D 0.992 5.483 26.2 0.999 0.988 D 0.971 D 0.990 D 0.718 0 4.58 0.917 0.998 0.948 0.899 17.386 Deleterious
1892 21 46116010 G A Pathogenic/Likely pathogenic COL6A2 . . . . . . . . . . 21 46116010 46116010 G A exonic COL6A2 . nonsynonymous SNV COL6A2:NM_001849:exon7:c.G857A:p.G286E,COL6A2:NM_058174:exon7:c.G857A:p.G286E,COL6A2:NM_058175:exon7:c.G857A:p.G286E 21q22.3 . rs727502827 0.0 D 1.0 D 0.996 D 0.000 D 1 D 3.8 H -5.52 D -6.32 D 0.963 6.186 28.6 0.997 0.954 D 1.007 D 0.986 D 0.696 0 4.26 0.630 1.048 0.398 0.989 17.047 Deleterious
1893 21 46117916 C T Pathogenic COL6A2 . . . . . . . . . . 21 46117916 46117916 C T exonic COL6A2 . stopgain COL6A2:NM_001849:exon12:c.C1096T:p.R366X,COL6A2:NM_058174:exon12:c.C1096T:p.R366X,COL6A2:NM_058175:exon12:c.C1096T:p.R366X 21q22.3 . rs387906609 . . . . . . 0.983 N 1 A . . . . . . . 9.402 35 0.995 0.959 D . . . . 0.696 0 3.57 0.871 0.036 0.928 0.401 11.990 Deleterious (FATHMM)
1894 21 46125509 G A Pathogenic COL6A2 . . . . . . . . . . 21 46125509 46125509 G A exonic COL6A2 . nonsynonymous SNV COL6A2:NM_001849:exon25:c.G1861A:p.D621N,COL6A2:NM_058174:exon25:c.G1861A:p.D621N,COL6A2:NM_058175:exon25:c.G1861A:p.D621N 21q22.3 . rs267606750 0.0 D 1.0 D 0.999 D 0.000 D 1 D 3.76 H -4.64 D -4.32 D 0.407 7.048 33 0.999 0.986 D 1.087 D 0.970 D 0.696 0 4.07 0.897 0.986 1.000 0.998 16.254 Deleterious
1895 22 28695187 C T Pathogenic/Likely pathogenic CHEK2 . . . . . . . . . . 22 28695187 28695187 C T exonic CHEK2 . nonsynonymous SNV CHEK2:NM_145862:exon11:c.C1228A:p.Q410K,CHEK2:NM_007194:exon12:c.C1315A:p.Q439K,CHEK2:NM_001005735:exon13:c.C1444A:p.Q482K,CHEK2:NM_001257387:exon13:c.C652A:p.Q218K 22q12.1 . . 0.169 T 1.0 D 0.993 D 0.000 D 1 D 0.295 N -0.07 T -3.44 D 0.89 5.347 25.9 0.995 0.987 D -0.466 T 0.288 T 0.707 0 5.81 0.917 1.047 1.000 1.000 19.054 Tolerated
1896 22 28725242 G A Pathogenic CHEK2 . . . . . . . . . . 22 28725242 28725242 G A splicing CHEK2 NM_145862:exon3:c.444+1C>T,NM_007194:exon3:c.444+1C>T,NM_001005735:exon4:c.573+1C>T . . 22q12.1 . rs121908698 . . . . . . . . 1 D . . . . . . . 3.206 22.7 0.954 0.943 D . . . . 0.295 0 4.86 0.871 0.892 0.918 0.984 14.008 Deleterious (FATHMM)
1897 22 28725242 G T Pathogenic/Likely pathogenic, not provided CHEK2 . . . . . . . . . . 22 28725242 28725242 G T splicing CHEK2 NM_145862:exon3:c.444+1C>A,NM_007194:exon3:c.444+1C>A,NM_001005735:exon4:c.573+1C>A . . 22q12.1 . rs121908698 . . . . . . . . 1 D . . . . . . . 3.182 22.7 0.955 0.919 D . . . . 0.295 0 4.86 0.871 0.892 0.918 0.984 14.008 Deleterious (FATHMM)
1898 22 28725254 C T Pathogenic/Likely pathogenic, not provided CHEK2 . . . . . . . . . . 22 28725254 28725254 C T exonic CHEK2 . synonymous SNV CHEK2:NM_007194:exon3:c.C433A:p.R145R,CHEK2:NM_145862:exon3:c.C433A:p.R145R,CHEK2:NM_001005735:exon4:c.C562A:p.R188R 22q12.1 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
1899 22 28725278 C T Pathogenic/Likely pathogenic CHEK2 . . . . . . . . . . 22 28725278 28725278 C T exonic CHEK2 . synonymous SNV CHEK2:NM_007194:exon3:c.C409A:p.R137R,CHEK2:NM_145862:exon3:c.C409A:p.R137R,CHEK2:NM_001005735:exon4:c.C538A:p.R180R 22q12.1 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
1900 22 28734401 T A Pathogenic/Likely pathogenic CHEK2 . . . . . . . . . . 22 28734401 28734401 T A splicing CHEK2 NM_145862:exon2:c.319+2A>T,NM_007194:exon2:c.319+2A>T,NM_001005735:exon2:c.319+2A>T . . 22q12.1 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .
1901 22 28734439 C T Pathogenic CHEK2 . . . . . . . . . . 22 28734439 28734439 C T exonic CHEK2 . synonymous SNV CHEK2:NM_001005735:exon2:c.C283A:p.R95R,CHEK2:NM_007194:exon2:c.C283A:p.R95R,CHEK2:NM_145862:exon2:c.C283A:p.R95R 22q12.1 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
1902 22 28734443 G A Pathogenic CHEK2 . . . . . . . . . . 22 28734443 28734443 G A exonic CHEK2 . nonsynonymous SNV CHEK2:NM_001005735:exon2:c.G279T:p.W93C,CHEK2:NM_007194:exon2:c.G279T:p.W93C,CHEK2:NM_145862:exon2:c.G279T:p.W93C 22q12.1 . . 0.0 D 1.0 D 1.0 D 0.000 D 1 D 1.905 M 2.32 T -4.44 D 0.92 6.907 33 0.993 0.960 D 0.803 D 0.828 D 0.707 0 5.42 0.871 0.836 0.831 0.996 18.572 Deleterious
1903 22 28734517 C T Pathogenic/Likely pathogenic CHEK2 . . . . . . . . . . 22 28734517 28734517 C T exonic CHEK2 . nonsynonymous SNV CHEK2:NM_001005735:exon2:c.C205A:p.Q69K,CHEK2:NM_007194:exon2:c.C205A:p.Q69K,CHEK2:NM_145862:exon2:c.C205A:p.Q69K 22q12.1 . rs768384031 0.013 D 0.996 D 0.979 D 0.000 D 1 D 1.845 L 2.21 T -1.59 N 0.709 6.113 28.3 0.996 0.957 D 0.903 D 0.868 D 0.707 0 5.42 0.917 0.935 0.994 1.000 18.572 Deleterious
1904 22 28734571 C T Pathogenic CHEK2 . . . . . . . . . . 22 28734571 28734571 C T exonic CHEK2 . nonsynonymous SNV CHEK2:NM_001005735:exon2:c.C151A:p.Q51K,CHEK2:NM_007194:exon2:c.C151A:p.Q51K,CHEK2:NM_145862:exon2:c.C151A:p.Q51K 22q12.1 . . 0.555 T 0.996 D 0.979 D 0.003 N 1 D 1.355 L 2.35 T -0.63 N 0.632 4.241 23.9 0.993 0.957 D 0.392 D 0.811 D 0.707 0 5.42 0.917 0.935 0.980 0.957 18.572 Deleterious
1905 22 28734637 C T Pathogenic CHEK2 . . . . . . . . . . 22 28734637 28734637 C T exonic CHEK2 . nonsynonymous SNV CHEK2:NM_001005735:exon2:c.C85A:p.Q29K,CHEK2:NM_007194:exon2:c.C85A:p.Q29K,CHEK2:NM_145862:exon2:c.C85A:p.Q29K 22q12.1 . . 0.037 D 0.065 B 0.035 B 0.761 N 1 D 0.695 N 0.82 T -0.38 N 0.291 2.040 16.47 0.920 0.860 D -0.376 T 0.606 D 0.732 0 3.61 0.630 0.935 0.024 0.335 9.268 Deleterious
1906 22 38112212 T G Pathogenic PLA2G6 . . . . . . . . . . 22 38112212 38112212 T G exonic PLA2G6 . synonymous SNV PLA2G6:NM_001004426:exon16:c.T2208C:p.Y736Y,PLA2G6:NM_001199562:exon16:c.T2208C:p.Y736Y,PLA2G6:NM_003560:exon17:c.T2370C:p.Y790Y 22q13.1 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
1907 22 38112565 G C Pathogenic PLA2G6 . . . . . . . . . . 22 38112565 38112565 G C exonic PLA2G6 . synonymous SNV PLA2G6:NM_001004426:exon15:c.G2053G:p.D685D,PLA2G6:NM_001199562:exon15:c.G2053G:p.D685D,PLA2G6:NM_003560:exon16:c.G2215G:p.D739D 22q13.1 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
1908 22 38115658 C T Pathogenic PLA2G6 . . . . . . . . . . 22 38115658 38115658 C T exonic PLA2G6 . synonymous SNV PLA2G6:NM_001004426:exon13:c.C1741A:p.R581R,PLA2G6:NM_001199562:exon13:c.C1741A:p.R581R,PLA2G6:NM_003560:exon14:c.C1903A:p.R635R 22q13.1 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
1909 22 38129523 G A Pathogenic/Likely pathogenic PLA2G6 . . . . . . . . . . 22 38129523 38129523 G A exonic PLA2G6 . stopgain PLA2G6:NM_001004426:exon8:c.G1117T:p.G373X,PLA2G6:NM_001199562:exon8:c.G1117T:p.G373X,PLA2G6:NM_003560:exon8:c.G1117T:p.G373X 22q13.1 . . . . . . . . 0.000 D 1 A . . . . . . . 13.088 41 0.993 0.988 D . . . . 0.707 0 5.34 0.871 0.935 0.996 0.988 19.390 Deleterious (FATHMM)
1910 22 38169318 C T Pathogenic PLA2G6 . . . . . . . . . . 22 38169318 38169318 C T exonic PLA2G6 . synonymous SNV PLA2G6:NM_001004426:exon2:c.C109A:p.R37R,PLA2G6:NM_001199562:exon2:c.C109A:p.R37R,PLA2G6:NM_003560:exon2:c.C109A:p.R37R 22q13.1 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
1911 22 40350018 T C Pathogenic ADSL . . . . . . . . . . 22 40350018 40350018 T C exonic ADSL . nonsynonymous SNV ADSL:NM_000026:exon2:c.T340C:p.Y114H,ADSL:NM_001123378:exon2:c.T340C:p.Y114H 22q13.1 7.7e-05 rs374259530 0.0 D 1.0 D 0.998 D 0.000 D 1 D 3.635 H -5.73 D -4.4 D 0.91 6.135 28.4 0.998 0.986 D 1.024 D 0.986 D 0.707 0 5.59 0.991 1.061 0.998 0.998 15.854 Deleterious
1912 22 40364965 G A Pathogenic ADSL . . . . . . . . . . 22 40364965 40364965 G A exonic ADSL . nonsynonymous SNV ADSL:NM_000026:exon12:c.G1277A:p.R426H 22q13.1 . rs119450941 . . 0.696 P 0.344 B 0.000 D 1 A 3.685 H . . . . 0.936 5.899 27.5 0.999 0.993 D 1.042 D 0.909 D 0.722 0 5.67 0.917 1.048 0.969 0.988 19.776 Deleterious
1913 22 42061052 G A Pathogenic NAGA . . . . . . . . . . 22 42061052 42061052 G A exonic NAGA . stopgain NAGA:NM_000262:exon8:c.G973T:p.E325X 22q13.2 . . . . . . . . 0.000 D 1 A . . . . . . . 13.717 43 0.995 0.964 D . . . . 0.707 0 5.68 0.871 0.834 0.935 0.390 17.971 Deleterious (FATHMM)
1914 22 50625392 C T Pathogenic ARSA . . . . . . . . . . 22 50625392 50625392 C T exonic ARSA . nonsynonymous SNV ARSA:NM_000487:exon8:c.C1283A:p.P428Q,ARSA:NM_001085428:exon8:c.C1025A:p.P342Q,ARSA:NM_001085425:exon9:c.C1283A:p.P428Q,ARSA:NM_001085426:exon9:c.C1283A:p.P428Q,ARSA:NM_001085427:exon9:c.C1283A:p.P428Q 22q13.33 . . 0.0 D 1.0 D 1.0 D 0.000 D 1 D 2.27 M -4.33 D -6.96 D 0.863 6.607 32 0.994 0.993 D 1.087 D 0.942 D 0.745 0 5.57 0.917 0.998 0.874 0.890 17.048 Deleterious
1915 22 50626250 G A Pathogenic/Likely pathogenic, not provided ARSA . . . . . . . . . . 22 50626250 50626250 G A exonic ARSA . nonsynonymous SNV ARSA:NM_000487:exon5:c.G883T:p.G295C,ARSA:NM_001085428:exon5:c.G625T:p.G209C,ARSA:NM_001085425:exon6:c.G883T:p.G295C,ARSA:NM_001085426:exon6:c.G883T:p.G295C,ARSA:NM_001085427:exon6:c.G883T:p.G295C 22q13.33 . . 0.0 D 1.0 D 1.0 D 0.000 D 1 D 3.32 M -4.01 D -8.76 D 0.985 7.789 35 0.998 0.977 D 1.099 D 0.951 D 0.758 0 5.21 0.871 0.852 0.858 0.856 16.265 Deleterious
1916 22 50626676 G C Pathogenic ARSA . . . . . . . . . . 22 50626676 50626676 G C exonic ARSA . synonymous SNV ARSA:NM_000487:exon4:c.G769G:p.D257D,ARSA:NM_001085428:exon4:c.G511G:p.D171D,ARSA:NM_001085425:exon5:c.G769G:p.D257D,ARSA:NM_001085426:exon5:c.G769G:p.D257D,ARSA:NM_001085427:exon5:c.G769G:p.D257D 22q13.33 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
1917 22 50626682 G A Pathogenic/Likely pathogenic ARSA . . . . . . . . . . 22 50626682 50626682 G A exonic ARSA . stopgain ARSA:NM_000487:exon4:c.G763T:p.E255X,ARSA:NM_001085428:exon4:c.G505T:p.E169X,ARSA:NM_001085425:exon5:c.G763T:p.E255X,ARSA:NM_001085426:exon5:c.G763T:p.E255X,ARSA:NM_001085427:exon5:c.G763T:p.E255X 22q13.33 . . . . . . . . 0.000 D 1 A . . . . . . . 11.934 38 0.998 0.982 D . . . . 0.706 0 5.25 0.871 0.935 1.000 1.000 16.340 Deleterious (FATHMM)
1918 22 50627165 G A Pathogenic ARSA . . . . . . . . . . 22 50627165 50627165 G A splicing ARSA NM_001085425:exon3:c.465+1C>T,NM_000487:exon2:c.465+1C>T,NM_001085428:exon2:c.207+1C>T,NM_001085427:exon3:c.465+1C>T,NM_001085426:exon3:c.465+1C>T . . 22q13.33 . . . . . . . . . . 1 D . . . . . . . 4.140 23.8 0.993 0.985 D . . . . 0.209 1 4.74 0.871 0.922 0.929 0.620 15.574 Deleterious (FATHMM)
1919 X 18584312 C A Pathogenic CDKL5 . . . . . . . . . . X 18584312 18584312 C A exonic CDKL5 . stopgain CDKL5:NM_003159:exon8:c.C513A:p.Y171X,CDKL5:NM_001037343:exon9:c.C513A:p.Y171X Xp22.13 . rs267608490 . . . . . . 0.000 D 1 A . . . . . . . 9.801 36 0.997 0.849 D . . . . . . 0.476 -0.845 -0.293 0.991 0.995 9.52 Deleterious (FATHMM)
1920 X 18584332 G A Pathogenic/Likely pathogenic CDKL5 . . . . . . . . . . X 18584332 18584332 G A exonic CDKL5 . nonsynonymous SNV CDKL5:NM_003159:exon8:c.G533A:p.R178Q,CDKL5:NM_001037343:exon9:c.G533A:p.R178Q Xp22.13 . rs267606715 0.0 D 1.0 D 0.998 D 0.000 D 1 D 2.995 M 0.71 T -4.0 D 0.956 7.256 34 1.000 0.987 D -0.132 T 0.382 T . . 5.6 0.917 0.998 0.991 0.836 18.642 Tolerated
1921 X 18604599 C T Pathogenic CDKL5 . . . . . . . . . . X 18604599 18604599 C T exonic CDKL5 . stopgain CDKL5:NM_003159:exon12:c.C1675T:p.R559X,CDKL5:NM_001037343:exon13:c.C1675T:p.R559X Xp22.13 . rs267608395 . . . . . . 0.000 D 1 A . . . . . . . 11.369 37 0.998 0.952 D . . . . . . 3.15 0.871 0.935 0.995 0.995 8.787 Deleterious (FATHMM)
1922 X 18628470 C T Pathogenic CDKL5 . . . . . . . . . . X 18628470 18628470 C T exonic CDKL5 . stopgain CDKL5:NM_003159:exon18:c.C2596T:p.Q866X,CDKL5:NM_001037343:exon19:c.C2596T:p.Q866X Xp22.13 . rs587783158 . . . . . . 0.000 D 1 A . . . . . . . 14.171 45 0.998 0.972 D . . . . . . 5.66 0.871 0.935 0.999 1.000 18.722 Deleterious (FATHMM)
1923 X 21880921 G A Pathogenic MBTPS2 . . . . . . . . . . X 21880921 21880921 G A exonic MBTPS2 . nonsynonymous SNV MBTPS2:NM_015884:exon10:c.G1286A:p.R429H Xp22.12 . rs122468178 0.0 D 1.0 D 0.995 D 0.000 D 1 A 2.885 M -4.27 D -3.97 D 0.977 7.285 34 0.999 0.989 D 1.085 D 0.952 D . . 5.3 0.917 1.048 1.000 1.000 16.634 Deleterious
1924 X 22219070 G A Pathogenic/Likely pathogenic PHEX|PTCHD1-AS . . . . . . . . . . X 22219070 22219070 G A exonic PHEX . nonsynonymous SNV PHEX:NM_000444:exon17:c.G1735A:p.G579R,PHEX:NM_001282754:exon17:c.G1735A:p.G579R Xp22.11 . . 0.0 D 1.0 D 1.0 D 0.000 D 1 D 4.22 H -2.33 D -7.62 D 0.997 7.297 34 0.999 0.988 D 1.039 D 0.888 D . . 5.86 0.917 1.048 0.981 0.986 19.145 Deleterious
1925 X 31178721 C T Pathogenic DMD . . . . . . . . . . X 31178721 31178721 C T exonic DMD . synonymous SNV DMD:NM_004015:exon9:c.C967A:p.R323R,DMD:NM_004016:exon9:c.C967A:p.R323R,DMD:NM_004017:exon9:c.C967A:p.R323R,DMD:NM_004018:exon9:c.C967A:p.R323R,DMD:NM_004019:exon9:c.C967A:p.R323R,DMD:NM_004014:exon16:c.C1984A:p.R662R,DMD:NM_004013:exon27:c.C2791A:p.R931R,DMD:NM_004020:exon27:c.C2791A:p.R931R,DMD:NM_004021:exon27:c.C2791A:p.R931R,DMD:NM_004022:exon27:c.C2791A:p.R931R,DMD:NM_004023:exon27:c.C2791A:p.R931R,DMD:NM_004011:exon42:c.C6148A:p.R2050R,DMD:NM_004012:exon42:c.C6139A:p.R2047R,DMD:NM_000109:exon70:c.C10147A:p.R3383R,DMD:NM_004006:exon70:c.C10171A:p.R3391R,DMD:NM_004009:exon70:c.C10159A:p.R3387R,DMD:NM_004010:exon70:c.C9802A:p.R3268R Xp21.2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
1926 X 31178784 C T Pathogenic DMD . . . . . . . . . . X 31178784 31178784 C T exonic DMD . synonymous SNV DMD:NM_004015:exon9:c.C904A:p.R302R,DMD:NM_004016:exon9:c.C904A:p.R302R,DMD:NM_004017:exon9:c.C904A:p.R302R,DMD:NM_004018:exon9:c.C904A:p.R302R,DMD:NM_004019:exon9:c.C904A:p.R302R,DMD:NM_004014:exon16:c.C1921A:p.R641R,DMD:NM_004013:exon27:c.C2728A:p.R910R,DMD:NM_004020:exon27:c.C2728A:p.R910R,DMD:NM_004021:exon27:c.C2728A:p.R910R,DMD:NM_004022:exon27:c.C2728A:p.R910R,DMD:NM_004023:exon27:c.C2728A:p.R910R,DMD:NM_004011:exon42:c.C6085A:p.R2029R,DMD:NM_004012:exon42:c.C6076A:p.R2026R,DMD:NM_000109:exon70:c.C10084A:p.R3362R,DMD:NM_004006:exon70:c.C10108A:p.R3370R,DMD:NM_004009:exon70:c.C10096A:p.R3366R,DMD:NM_004010:exon70:c.C9739A:p.R3247R Xp21.2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
1927 X 31206663 C T Pathogenic DMD . . . . . . . . . . X 31206663 31206663 C T exonic DMD . synonymous SNV DMD:NM_004015:exon5:c.C364A:p.R122R,DMD:NM_004016:exon5:c.C364A:p.R122R,DMD:NM_004017:exon5:c.C364A:p.R122R,DMD:NM_004018:exon5:c.C364A:p.R122R,DMD:NM_004019:exon5:c.C364A:p.R122R,DMD:NM_004014:exon12:c.C1381A:p.R461R,DMD:NM_004013:exon23:c.C2188A:p.R730R,DMD:NM_004020:exon23:c.C2188A:p.R730R,DMD:NM_004021:exon23:c.C2188A:p.R730R,DMD:NM_004022:exon23:c.C2188A:p.R730R,DMD:NM_004023:exon23:c.C2188A:p.R730R,DMD:NM_004011:exon38:c.C5545A:p.R1849R,DMD:NM_004012:exon38:c.C5536A:p.R1846R,DMD:NM_000109:exon66:c.C9544A:p.R3182R,DMD:NM_004006:exon66:c.C9568A:p.R3190R,DMD:NM_004009:exon66:c.C9556A:p.R3186R,DMD:NM_004010:exon66:c.C9199A:p.R3067R Xp21.2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
1928 X 31223071 C T Pathogenic DMD . . . . . . . . . . X 31223071 31223071 C T exonic DMD . synonymous SNV DMD:NM_004015:exon3:c.C133A:p.R45R,DMD:NM_004016:exon3:c.C133A:p.R45R,DMD:NM_004017:exon3:c.C133A:p.R45R,DMD:NM_004018:exon3:c.C133A:p.R45R,DMD:NM_004019:exon3:c.C133A:p.R45R,DMD:NM_004014:exon10:c.C1150A:p.R384R,DMD:NM_004013:exon21:c.C1957A:p.R653R,DMD:NM_004020:exon21:c.C1957A:p.R653R,DMD:NM_004021:exon21:c.C1957A:p.R653R,DMD:NM_004022:exon21:c.C1957A:p.R653R,DMD:NM_004023:exon21:c.C1957A:p.R653R,DMD:NM_004011:exon36:c.C5314A:p.R1772R,DMD:NM_004012:exon36:c.C5305A:p.R1769R,DMD:NM_000109:exon64:c.C9313A:p.R3105R,DMD:NM_004006:exon64:c.C9337A:p.R3113R,DMD:NM_004009:exon64:c.C9325A:p.R3109R,DMD:NM_004010:exon64:c.C8968A:p.R2990R Xp21.2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
1929 X 31478330 C T Pathogenic DMD . . . . . . . . . . X 31478330 31478330 C T exonic DMD . synonymous SNV DMD:NM_004014:exon5:c.C526A:p.R176R,DMD:NM_004013:exon16:c.C1333A:p.R445R,DMD:NM_004020:exon16:c.C1333A:p.R445R,DMD:NM_004021:exon16:c.C1333A:p.R445R,DMD:NM_004022:exon16:c.C1333A:p.R445R,DMD:NM_004023:exon16:c.C1333A:p.R445R,DMD:NM_004011:exon31:c.C4690A:p.R1564R,DMD:NM_004012:exon31:c.C4681A:p.R1561R,DMD:NM_000109:exon59:c.C8689A:p.R2897R,DMD:NM_004006:exon59:c.C8713A:p.R2905R,DMD:NM_004009:exon59:c.C8701A:p.R2901R,DMD:NM_004010:exon59:c.C8344A:p.R2782R Xp21.2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
1930 X 31479043 C T Pathogenic DMD . . . . . . . . . . X 31479043 31479043 C T exonic DMD . synonymous SNV DMD:NM_004014:exon4:c.C421A:p.R141R,DMD:NM_004013:exon15:c.C1228A:p.R410R,DMD:NM_004020:exon15:c.C1228A:p.R410R,DMD:NM_004021:exon15:c.C1228A:p.R410R,DMD:NM_004022:exon15:c.C1228A:p.R410R,DMD:NM_004023:exon15:c.C1228A:p.R410R,DMD:NM_004011:exon30:c.C4585A:p.R1529R,DMD:NM_004012:exon30:c.C4576A:p.R1526R,DMD:NM_000109:exon58:c.C8584A:p.R2862R,DMD:NM_004006:exon58:c.C8608A:p.R2870R,DMD:NM_004009:exon58:c.C8596A:p.R2866R,DMD:NM_004010:exon58:c.C8239A:p.R2747R Xp21.2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
1931 X 31627852 C T Pathogenic DMD . . . . . . . . . . X 31627852 31627852 C T exonic DMD . synonymous SNV DMD:NM_004013:exon12:c.C658A:p.R220R,DMD:NM_004020:exon12:c.C658A:p.R220R,DMD:NM_004021:exon12:c.C658A:p.R220R,DMD:NM_004022:exon12:c.C658A:p.R220R,DMD:NM_004023:exon12:c.C658A:p.R220R,DMD:NM_004011:exon27:c.C4015A:p.R1339R,DMD:NM_004012:exon27:c.C4006A:p.R1336R,DMD:NM_000109:exon55:c.C8014A:p.R2672R,DMD:NM_004006:exon55:c.C8038A:p.R2680R,DMD:NM_004009:exon55:c.C8026A:p.R2676R,DMD:NM_004010:exon55:c.C7669A:p.R2557R Xp21.1 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
1932 X 32216981 C T Pathogenic DMD . . . . . . . . . . X 32216981 32216981 C T exonic DMD . nonsynonymous SNV DMD:NM_004011:exon16:c.C2350A:p.Q784K,DMD:NM_004012:exon16:c.C2341A:p.Q781K,DMD:NM_000109:exon44:c.C6349A:p.Q2117K,DMD:NM_004006:exon44:c.C6373A:p.Q2125K,DMD:NM_004009:exon44:c.C6361A:p.Q2121K,DMD:NM_004010:exon44:c.C6004A:p.Q2002K Xp21.1 . . 0.573 T 0.07 B 0.023 B 0.068 U 0.997 N 1.15 L 0.81 T -0.36 N 0.176 1.082 11.12 0.780 0.867 D -1.044 T 0.099 T . . 5.62 0.917 0.998 1.000 1.000 13.186 Tolerated
1933 X 32362826 C T Pathogenic DMD . . . . . . . . . . X 32362826 32362826 C T exonic DMD . synonymous SNV DMD:NM_004011:exon9:c.C1264A:p.R422R,DMD:NM_004012:exon9:c.C1255A:p.R419R,DMD:NM_000109:exon37:c.C5263A:p.R1755R,DMD:NM_004006:exon37:c.C5287A:p.R1763R,DMD:NM_004009:exon37:c.C5275A:p.R1759R,DMD:NM_004010:exon37:c.C4918A:p.R1640R Xp21.1 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
1934 X 32365175 C T Pathogenic DMD . . . . . . . . . . X 32365175 32365175 C T exonic DMD . nonsynonymous SNV DMD:NM_004011:exon7:c.C847A:p.Q283K,DMD:NM_004012:exon7:c.C838A:p.Q280K,DMD:NM_000109:exon35:c.C4846A:p.Q1616K,DMD:NM_004006:exon35:c.C4870A:p.Q1624K,DMD:NM_004009:exon35:c.C4858A:p.Q1620K,DMD:NM_004010:exon35:c.C4501A:p.Q1501K Xp21.1 . . 0.453 T 0.047 B 0.037 B 0.138 U 0.986 N 0 N 1.43 T 0.18 N 0.298 2.447 19.13 0.973 0.984 D -1.066 T 0.071 T . . 4.84 -0.045 1.048 0.853 1.000 14.666 Tolerated
1935 X 32380626 C T Pathogenic DMD . . . . . . . . . . X 32380626 32380626 C T exonic DMD . synonymous SNV DMD:NM_004011:exon6:c.C706A:p.R236R,DMD:NM_004012:exon6:c.C697A:p.R233R,DMD:NM_000109:exon34:c.C4705A:p.R1569R,DMD:NM_004006:exon34:c.C4729A:p.R1577R,DMD:NM_004009:exon34:c.C4717A:p.R1573R,DMD:NM_004010:exon34:c.C4360A:p.R1454R Xp21.1 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
1936 X 32438372 C T Pathogenic DMD . . . . . . . . . . X 32438372 32438372 C T exonic DMD . synonymous SNV DMD:NM_000109:exon29:c.C3916A:p.R1306R,DMD:NM_004006:exon29:c.C3940A:p.R1314R,DMD:NM_004009:exon29:c.C3928A:p.R1310R,DMD:NM_004010:exon29:c.C3571A:p.R1191R Xp21.1 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
1937 X 32463438 G A Pathogenic DMD . . . . . . . . . . X 32463438 32463438 G A splicing DMD NM_000109:exon25:c.3408+1C>T,NM_004009:exon25:c.3420+1C>T,NM_004006:exon25:c.3432+1C>T,NM_004010:exon25:c.3063+1C>T . . Xp21.1 . . . . . . . . . . 1 D . . . . . . . 4.642 24.5 0.993 0.987 D . . . . . . 5.43 0.871 0.935 0.846 0.565 18.384 Deleterious (FATHMM)
1938 X 32468509 C T Pathogenic DMD . . . . . . . . . . X 32468509 32468509 C T exonic DMD . synonymous SNV DMD:NM_000109:exon23:c.C3127A:p.R1043R,DMD:NM_004006:exon23:c.C3151A:p.R1051R,DMD:NM_004009:exon23:c.C3139A:p.R1047R,DMD:NM_004010:exon23:c.C2782A:p.R928R Xp21.1 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
1939 X 32484925 C T Pathogenic DMD . . . . . . . . . . X 32484925 32484925 C T exonic DMD . nonsynonymous SNV DMD:NM_000109:exon21:c.C2773A:p.Q925K,DMD:NM_004006:exon21:c.C2797A:p.Q933K,DMD:NM_004009:exon21:c.C2785A:p.Q929K,DMD:NM_004010:exon21:c.C2428A:p.Q810K Xp21.1 . rs756949497 0.304 T 0.963 D 0.959 D 0.003 U 0.761 D 0.975 L 1.28 T -1.21 N 0.57 3.685 23.3 0.991 0.968 D -1.008 T 0.147 T . . 5.24 0.917 0.998 1.000 1.000 17.953 Tolerated
1940 X 32573834 C T Pathogenic DMD . . . . . . . . . . X 32573834 32573834 C T exonic DMD . synonymous SNV DMD:NM_000109:exon14:c.C1591A:p.R531R,DMD:NM_004006:exon14:c.C1615A:p.R539R,DMD:NM_004009:exon14:c.C1603A:p.R535R,DMD:NM_004010:exon14:c.C1246A:p.R416R Xp21.1 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
1941 X 32809559 C T Pathogenic DMD . . . . . . . . . . X 32809559 32809559 C T exonic DMD . synonymous SNV DMD:NM_000109:exon7:c.C559A:p.R187R,DMD:NM_004006:exon7:c.C583A:p.R195R,DMD:NM_004009:exon7:c.C571A:p.R191R,DMD:NM_004010:exon7:c.C214A:p.R72R Xp21.1 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
1942 X 32816565 C T Pathogenic DMD . . . . . . . . . . X 32816565 32816565 C T exonic DMD . synonymous SNV DMD:NM_000109:exon6:c.C409A:p.R137R,DMD:NM_004006:exon6:c.C433A:p.R145R,DMD:NM_004009:exon6:c.C421A:p.R141R,DMD:NM_004010:exon6:c.C64A:p.R22R Xp21.1 . rs128626235 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
1943 X 33211281 G T Pathogenic DMD . . . . . . . . . . X 33211281 33211281 G T splicing DMD NM_004006:exon1:c.31+1C>A . . Xp21.1 . . . . . . . . . . 1 D . . . . . . . 4.891 24.9 0.992 0.958 D . . . . . . 5.98 0.871 0.935 1.000 1.000 18.145 Deleterious (FATHMM)
1944 X 33211304 G A Pathogenic DMD . . . . . . . . . . X 33211304 33211304 G A exonic DMD . nonsynonymous SNV DMD:NM_004006:exon1:c.G9T:p.W3C Xp21.1 . . 0.0 D 0.698 P 0.27 B 0.004 U 1 D 0.69 N 0.28 T 0.25 N 0.88 6.248 28.9 0.984 0.966 D -0.572 T 0.236 T . . 5.98 0.871 0.935 1.000 1.000 18.145 Tolerated
1945 X 41542805 C T Pathogenic CASK . . . . . . . . . . X 41542805 41542805 C T exonic CASK . synonymous SNV CASK:NM_001126055:exon20:c.C1954A:p.R652R,CASK:NM_001126054:exon21:c.C1972A:p.R658R,CASK:NM_003688:exon22:c.C2041A:p.R681R Xp11.4 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
1946 X 43949981 C T Pathogenic NDP . . . . . . . . . . X 43949981 43949981 C T exonic NDP . nonsynonymous SNV NDP:NM_000266:exon3:c.C220A:p.R74S Xp11.3 . . 0.0 D 0.997 D 0.993 D 0.000 D 1 D 0.805 L -5.38 D -1.95 N 0.849 2.636 20.4 0.990 0.978 D 1.148 D 0.955 D . . 5.96 0.917 1.036 0.992 0.986 19.357 Deleterious
1947 X 53382645 G A Pathogenic/Likely pathogenic SMC1A . . . . . . . . . . X 53382645 53382645 G A exonic SMC1A . nonsynonymous SNV SMC1A:NM_006306:exon21:c.G3146T:p.R1049L,SMC1A:NM_001281463:exon22:c.G3080T:p.R1027L Xp11.22 . . 0.002 D 1.0 D 1.0 D 0.000 D 1 D 3.125 M -1.18 T -6.56 D 0.741 7.198 34 0.998 0.966 D 0.458 D 0.659 D . . 4.17 -0.001 0.935 0.967 0.998 11.976 Deleterious
1948 X 69616310 T C Pathogenic EDA . . . . . . . . . . X 69616310 69616310 T C exonic EDA . nonsynonymous SNV EDA:NM_001005609:exon1:c.T2C:p.M1T,EDA:NM_001005610:exon1:c.T2C:p.M1T,EDA:NM_001005612:exon1:c.T2C:p.M1T,EDA:NM_001005613:exon1:c.T2C:p.M1T,EDA:NM_001399:exon1:c.T2C:p.M1T Xq13.1 . rs397516659 0.0 D 0.978 D 0.806 P 0.001 D 1 D . . -3.62 D 0.18 N 0.916 2.424 18.98 0.968 0.763 D 0.992 D 0.920 D . . 4.56 0.991 1.058 1.000 1.000 5.851 Deleterious
1949 X 69957093 C T Pathogenic EDA . . . . . . . . . . X 69957093 69957093 C T exonic EDA . nonsynonymous SNV EDA:NM_001005609:exon2:c.C463T:p.R155C,EDA:NM_001005612:exon2:c.C463T:p.R155C,EDA:NM_001399:exon2:c.C463T:p.R155C Xq13.1 . rs132630312 0.001 D 0.014 B 0.003 B 0.542 N 0.944 A 0.55 N -0.64 T -1.35 N 0.727 5.229 25.6 0.995 0.631 D -0.140 T 0.549 D . . 3.2 0.871 0.935 0.997 0.995 6.746 Deleterious
1950 X 69957097 G A Pathogenic EDA . . . . . . . . . . X 69957097 69957097 G A exonic EDA . nonsynonymous SNV EDA:NM_001005609:exon2:c.G467A:p.R156H,EDA:NM_001005612:exon2:c.G467A:p.R156H,EDA:NM_001399:exon2:c.G467A:p.R156H Xq13.1 . rs132630314 0.011 D 0.999 D 0.936 D 0.006 N 0.960 D 0.895 L -0.56 T -0.5 N 0.761 4.195 23.9 0.997 0.903 D 0.601 D 0.755 D . . 4.97 0.917 1.048 0.998 1.000 12.463 Deleterious
1951 X 70029527 C T Pathogenic EDA . . . . . . . . . . X 70029527 70029527 C T exonic EDA . stopgain EDA:NM_001005609:exon5:c.C730T:p.R244X,EDA:NM_001005612:exon5:c.C730T:p.R244X,EDA:NM_001399:exon5:c.C730T:p.R244X Xq13.1 . rs397516672 . . . . . . 0.000 D 1 A . . . . . . . 12.038 38 0.995 0.900 D . . . . . . 1.57 0.598 0.935 0.997 0.998 13.214 Deleterious (FATHMM)
1952 X 70033475 G A Pathogenic EDA . . . . . . . . . . X 70033475 70033475 G A exonic EDA . nonsynonymous SNV EDA:NM_001005609:exon7:c.G871A:p.G291R,EDA:NM_001005612:exon7:c.G862A:p.G288R,EDA:NM_001399:exon7:c.G871A:p.G291R Xq13.1 . rs397516677 0.006 D 1.0 D 1.0 D 0.000 D 1.000 D 1.955 M -6.42 D -3.7 D 0.948 6.997 33 0.999 0.928 D 1.044 D 0.985 D . . 5.48 0.917 1.048 1.000 0.997 17.227 Deleterious
1953 X 71108336 C T Pathogenic IL2RG . . . . . . . . . . X 71108336 71108336 C T exonic IL2RG . synonymous SNV IL2RG:NM_000206:exon7:c.C865A:p.R289R Xq13.1 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
1954 X 71110295 T C Pathogenic/Likely pathogenic IL2RG . . . . . . . . . . X 71110295 71110295 T C exonic IL2RG . nonsynonymous SNV IL2RG:NM_000206:exon4:c.T455G:p.V152G Xq13.1 . . 0.002 D 1.0 D 0.999 D 0.000 N 1 D 2.175 M -4.19 D -5.84 D 0.924 5.025 25.2 0.997 0.920 D 1.036 D 0.920 D . . 5.34 1.062 1.199 1.000 1.000 12.085 Deleterious
1955 X 71223249 C T Pathogenic GJB1 . . . . . . . . . . X 71223249 71223249 C T UTR5 GJB1 NM_000166:c.-459C>T . . Xq13.1 . rs863224971 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .
1956 X 71223750 C T Pathogenic GJB1 . . . . . . . . . . X 71223750 71223750 C T exonic GJB1 . nonsynonymous SNV GJB1:NM_000166:exon2:c.C43T:p.R15W,GJB1:NM_001097642:exon2:c.C43T:p.R15W Xq13.1 . rs116840815 0.0 D 1.0 D 0.995 D 0.000 D 1.000 A 2.34 M -5.49 D -5.46 D 0.839 6.550 31 0.999 0.845 D 1.096 D 0.970 D . . 4.36 0.868 0.847 0.999 1.000 15.939 Deleterious
1957 X 71223751 G A Pathogenic GJB1 . . . . . . . . . . X 71223751 71223751 G A exonic GJB1 . nonsynonymous SNV GJB1:NM_000166:exon2:c.G44A:p.R15Q,GJB1:NM_001097642:exon2:c.G44A:p.R15Q Xq13.1 . rs863224974 0.062 T 0.995 D 0.936 D 0.000 D 1.000 D 0.925 L -5.37 D -1.57 N 0.784 4.752 24.7 0.999 0.826 D 1.109 D 0.948 D . . 4.36 0.913 0.947 1.000 1.000 15.939 Deleterious
1958 X 71223990 G A Pathogenic GJB1 . . . . . . . . . . X 71223990 71223990 G A exonic GJB1 . nonsynonymous SNV GJB1:NM_000166:exon2:c.G283A:p.V95M,GJB1:NM_001097642:exon2:c.G283A:p.V95M Xq13.1 . rs104894821 0.0 D 1.0 D 0.997 D 0.000 D 1 A 3.065 M -5.61 D -2.96 D 0.942 4.949 25.0 0.999 0.954 D 1.050 D 0.982 D . . 4.67 0.913 0.947 1.000 1.000 16.960 Deleterious
1959 X 71224012 A G Pathogenic GJB1 . . . . . . . . . . X 71224012 71224012 A G exonic GJB1 . nonsynonymous SNV GJB1:NM_000166:exon2:c.A305G:p.E102G,GJB1:NM_001097642:exon2:c.A305G:p.E102G Xq13.1 . rs779696968 0.003 D 0.959 D 0.635 P 0.000 D 1.000 D 2.225 M -5.55 D -4.9 D 0.781 3.748 23.3 0.998 0.950 D 1.066 D 0.950 D . . 4.67 1.058 1.081 0.998 1.000 13.454 Deleterious
1960 X 71224197 C T Pathogenic GJB1 . . . . . . . . . . X 71224197 71224197 C T exonic GJB1 . nonsynonymous SNV GJB1:NM_000166:exon2:c.C490T:p.R164W,GJB1:NM_001097642:exon2:c.C490T:p.R164W Xq13.1 9.5e-05 rs139643362 0.154 T 0.986 D 0.581 P 0.000 D 1 D 2.305 M -3.81 D -5.78 D 0.987 5.738 26.9 0.998 0.935 D 0.821 D 0.849 D . . 3.91 0.868 0.850 1.000 0.998 13.728 Deleterious
1961 X 71224254 C T Pathogenic GJB1 . . . . . . . . . . X 71224254 71224254 C T exonic GJB1 . nonsynonymous SNV GJB1:NM_000166:exon2:c.C547T:p.R183C,GJB1:NM_001097642:exon2:c.C547T:p.R183C Xq13.1 . rs863224471 0.0 D 1.0 D 1.0 D 0.000 D 1 D 3.265 M -4.4 D -7.31 D 0.992 6.316 29.2 0.999 0.863 D 1.105 D 0.958 D . . 4.99 0.868 0.934 0.998 0.993 17.503 Deleterious
1962 X 71224365 C T Pathogenic GJB1 . . . . . . . . . . X 71224365 71224365 C T exonic GJB1 . stopgain GJB1:NM_000166:exon2:c.C658T:p.R220X,GJB1:NM_001097642:exon2:c.C658T:p.R220X Xq13.1 . rs104894814 . . . . . . 0.038 N 1 A . . . . . . . 9.855 36 0.994 0.743 D . . . . . . 1.96 0.868 0.043 0.994 0.987 12.810 Deleterious (FATHMM)
1963 X 72495216 C T Pathogenic HDAC8 . . . . . . . . . . X 72495216 72495216 C T exonic HDAC8 . synonymous SNV HDAC8:NM_001166418:exon3:c.C217A:p.R73R,HDAC8:NM_001166448:exon3:c.C217A:p.R73R,HDAC8:NM_001166419:exon5:c.C490A:p.R164R,HDAC8:NM_018486:exon5:c.C490A:p.R164R Xq13.1 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
1964 X 74525834 C T Pathogenic/Likely pathogenic SLC16A2 . . . . . . . . . . X 74525834 74525834 C T exonic SLC16A2 . nonsynonymous SNV SLC16A2:NM_006517:exon4:c.C1111T:p.R371C Xq13.2 . rs587784384 . . 0.988 D 0.746 P 0.000 D 1 D 2.675 M 0.3 T . . 0.994 7.292 34 0.999 0.966 D -0.166 T 0.356 T . . 4.94 0.871 0.935 0.987 0.996 17.480 Tolerated
1965 X 77684520 C T Pathogenic ATRX . . . . . . . . . . X 77684520 77684520 C T exonic ATRX . nonsynonymous SNV ATRX:NM_138270:exon8:c.C622A:p.R208S,ATRX:NM_000489:exon9:c.C736A:p.R246S Xq21.1 . . 0.0 D 1.0 D 0.999 D 0.000 D 1.000 D 2.545 M -5.17 D -3.34 D 0.924 5.883 27.4 0.988 0.986 D 1.105 D 0.970 D . . 5.52 0.917 0.953 0.994 0.990 18.446 Deleterious
1966 X 77988722 C T Pathogenic ATP7A . . . . . . . . . . X 77988722 77988722 C T exonic ATP7A . stopgain ATP7A:NM_000052:exon3:c.C601T:p.R201X,ATP7A:NM_001282224:exon3:c.C601T:p.R201X Xq21.1 . rs151340633 . . . . . . 0.000 D 1 A . . . . . . . 10.316 36 0.997 0.895 D . . . . . . 3.26 0.871 -0.008 0.999 0.999 13.319 Deleterious (FATHMM)
1967 X 101397981 G A Pathogenic GLA|RPL36A-HNRNPH2 . . . . . . . . . . X 101397981 101397981 G A exonic GLA . nonsynonymous SNV GLA:NM_000169:exon7:c.G1118T:p.G373V Xq22.1 . . 0.001 D 0.998 D 0.79 P 0.000 D 1 D . . -6.29 D -3.81 D 0.629 4.808 24.8 0.993 0.852 D 1.048 D 0.979 D . . 5.05 0.871 0.935 0.480 0.899 14.25 Deleterious
1968 X 101398075 C T Pathogenic GLA|RPL36A-HNRNPH2 . . . . . . . . . . X 101398075 101398075 C T exonic GLA . synonymous SNV GLA:NM_000169:exon7:c.C1024A:p.R342R Xq22.1 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
1969 X 101398395 G A Pathogenic GLA|RPL36A-HNRNPH2 . . . . . . . . . . X 101398395 101398395 G A exonic GLA . nonsynonymous SNV GLA:NM_000169:exon6:c.G974T:p.G325V Xq22.1 . . 0.0 D 1.0 D 1.0 D 0.000 D 1 D . . -9.04 D -8.79 D 0.975 6.814 32 0.998 0.979 D 0.859 D 0.998 D . . 5.76 0.871 0.935 1.000 1.000 18.976 Deleterious
1970 X 101398467 G A Pathogenic GLA|RPL36A-HNRNPH2 . . . . . . . . . . X 101398467 101398467 G A exonic GLA . nonsynonymous SNV GLA:NM_000169:exon6:c.G902T:p.R301L Xq22.1 9.5e-05 rs104894828 0.005 D 1.0 D 0.987 D 0.000 D 1.000 D . . -6.56 D -6.7 D 0.977 7.347 34 0.999 0.950 D 1.012 D 0.988 D . . 5.05 0.871 0.935 0.973 0.992 14.322 Deleterious
1971 X 101398468 C T Pathogenic GLA|RPL36A-HNRNPH2 . . . . . . . . . . X 101398468 101398468 C T exonic GLA . synonymous SNV GLA:NM_000169:exon6:c.C901A:p.R301R Xq22.1 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
1972 X 101398522 C T Pathogenic GLA|RPL36A-HNRNPH2 . . . . . . . . . . X 101398522 101398522 C T exonic GLA . nonsynonymous SNV GLA:NM_000169:exon6:c.C847A:p.Q283K Xq22.1 . . 0.0 D 1.0 D 0.997 D 0.000 D 1 D . . -6.53 D -3.81 D 0.902 6.046 28.0 0.996 0.974 D 1.014 D 0.989 D . . 5.71 0.917 1.048 0.999 0.999 18.870 Deleterious
1973 X 101398873 G A Pathogenic GLA|RPL36A-HNRNPH2 . . . . . . . . . . X 101398873 101398873 G A exonic GLA . nonsynonymous SNV GLA:NM_000169:exon5:c.G713T:p.S238I Xq22.1 . . 0.0 D 1.0 D 1.0 D 0.000 D 1.000 D . . -8.42 D -5.85 D 0.97 6.338 29.3 0.996 0.872 D 0.850 D 0.997 D . . 5.11 0.871 0.935 0.981 0.979 15.719 Deleterious
1974 X 101398906 G A Pathogenic GLA|RPL36A-HNRNPH2 . . . . . . . . . . X 101398906 101398906 G A exonic GLA . nonsynonymous SNV GLA:NM_000169:exon5:c.G680T:p.R227L Xq22.1 . . 0.0 D 1.0 D 1.0 D 0.000 D 1 D . . -10.24 D -6.91 D 0.995 7.410 34 0.999 0.951 D 0.894 D 0.999 D . . 5.67 0.871 0.935 0.984 0.999 19.024 Deleterious
1975 X 101398907 C T Pathogenic GLA|RPL36A-HNRNPH2 . . . . . . . . . . X 101398907 101398907 C T exonic GLA . synonymous SNV GLA:NM_000169:exon5:c.C679A:p.R227R Xq22.1 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
1976 X 101398942 A G Pathogenic GLA|RPL36A-HNRNPH2 . . . . . . . . . . X 101398942 101398942 A G exonic GLA . nonsynonymous SNV GLA:NM_000169:exon5:c.A644C:p.N215T Xq22.1 . . 0.002 D 0.634 P 0.103 B 0.000 D 1.000 D . . -7.53 D -5.37 D 0.539 5.676 26.7 0.990 0.957 D 1.078 D 0.979 D . . 5.97 0.991 1.058 0.973 0.999 15.388 Deleterious
1977 X 101400692 C A Pathogenic/Likely pathogenic GLA|RPL36A-HNRNPH2 . . . . . . . . . . X 101400692 101400692 C A exonic GLA . nonsynonymous SNV GLA:NM_000169:exon4:c.C613T:p.P205S Xq22.1 . . 0.0 D 1.0 D 1.0 D 0.000 D 1 D . . -8.42 D -7.9 D 0.766 6.137 28.4 0.999 0.987 D 0.854 D 0.997 D . . 5.26 0.917 1.045 0.997 0.993 18.015 Deleterious
1978 X 101401710 C T Pathogenic GLA|RPL36A-HNRNPH2 . . . . . . . . . . X 101401710 101401710 C T exonic GLA . nonsynonymous SNV GLA:NM_000169:exon3:c.C469A:p.Q157K Xq22.1 . . 0.299 T 0.001 B 0.002 B 0.000 N 0.940 N . . -7.97 D -1.71 N 0.187 0.692 8.773 0.848 0.282 N 1.098 D 0.977 D . . -4.97 -0.033 0.049 0.997 0.992 15.544 Deleterious
1979 X 101401752 G C Pathogenic/Likely pathogenic GLA|RPL36A-HNRNPH2 . . . . . . . . . . X 101401752 101401752 G C exonic GLA . synonymous SNV GLA:NM_000169:exon3:c.G427G:p.A143A Xq22.1 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
1980 X 101403938 G A Pathogenic GLA|RPL36A-HNRNPH2 . . . . . . . . . . X 101403938 101403938 G A exonic GLA . nonsynonymous SNV GLA:NM_000169:exon2:c.G242T:p.W81L Xq22.1 . . 0.008 D 1.0 D 0.997 D 0.000 D 1 D . . -7.93 D -6.82 D 0.89 6.947 33 0.988 0.990 D 0.950 D 0.995 D . . 5.65 0.871 0.931 0.999 1.000 18.778 Deleterious
1981 X 108598793 G A Pathogenic COL4A5 . . . . . . . . . . X 108598793 108598793 G A exonic COL4A5 . nonsynonymous SNV COL4A5:NM_000495:exon25:c.G1871A:p.G624D Xq22.3 9.5e-05 rs104886142 0.119 T 0.999 D 0.98 D 0.000 D 1 A 3.36 M -4.85 D -4.83 D 0.958 2.962 22.1 0.994 0.991 D 1.076 D 0.971 D . . 5.07 0.917 0.112 0.796 0.894 16.270 Deleterious
1982 X 111331036 C T Pathogenic DCX . . . . . . . . . . X 111331036 111331036 C T exonic DCX . synonymous SNV DCX:NM_000555:exon5:c.C1057A:p.R353R,DCX:NM_001195553:exon5:c.C814A:p.R272R,DCX:NM_178151:exon5:c.C814A:p.R272R,DCX:NM_178152:exon5:c.C814A:p.R272R,DCX:NM_178153:exon5:c.C814A:p.R272R Xq23 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
1983 X 111333078 C T Pathogenic DCX . . . . . . . . . . X 111333078 111333078 C T exonic DCX . nonsynonymous SNV DCX:NM_000555:exon4:c.C1024A:p.Q342K,DCX:NM_001195553:exon4:c.C781A:p.Q261K,DCX:NM_178151:exon4:c.C781A:p.Q261K,DCX:NM_178152:exon4:c.C781A:p.Q261K,DCX:NM_178153:exon4:c.C781A:p.Q261K Xq23 . . 0.032 D 0.882 P 0.521 P 0.000 D 1.000 D 2.125 M -3.11 D -2.56 D 0.617 4.454 24.2 0.995 0.986 D 0.599 D 0.777 D . . 5.44 0.917 1.048 0.998 0.999 18.336 Deleterious
1984 X 111685040 A G Pathogenic ALG13 . . . . . . . . . . X 111685040 111685040 A G exonic ALG13 . nonsynonymous SNV ALG13:NM_001099922:exon3:c.A320G:p.N107S,ALG13:NM_001168385:exon3:c.A320G:p.N107S,ALG13:NM_001257230:exon3:c.A8G:p.N3S,ALG13:NM_001257231:exon3:c.A86G:p.N29S,ALG13:NM_001257234:exon3:c.A8G:p.N3S,ALG13:NM_001257235:exon3:c.A8G:p.N3S,ALG13:NM_001257237:exon3:c.A8G:p.N3S,ALG13:NM_001257239:exon3:c.A8G:p.N3S,ALG13:NM_001257240:exon3:c.A8G:p.N3S,ALG13:NM_001257241:exon3:c.A86G:p.N29S,ALG13:NM_018466:exon3:c.A320G:p.N107S Xq23 . rs398122394 0.0 D 0.994 D 0.858 P . . 1.000 N . . 0.31 T -1.59 N 0.187 4.440 24.2 0.998 0.936 D -0.494 T 0.497 T . . 2.13 1.062 1.194 1.000 1.000 6.4 Tolerated
1985 X 120442599 G A Pathogenic LAMP2 . . . . . . . . . . X 120442599 120442599 G A exonic LAMP2 . nonsynonymous SNV LAMP2:NM_001122606:exon7:c.G928T:p.V310F,LAMP2:NM_002294:exon7:c.G928T:p.V310F,LAMP2:NM_013995:exon7:c.G928T:p.V310F Xq24 . . 0.043 D 0.98 D 0.886 P 0.550 N 0.949 D 2.28 M 1.36 T -2.34 N 0.479 4.005 23.6 0.996 0.980 D -0.599 T 0.222 T . . 5.17 0.871 0.935 0.990 0.921 16.156 Tolerated
1986 X 120442650 C T Pathogenic LAMP2 . . . . . . . . . . X 120442650 120442650 C T exonic LAMP2 . synonymous SNV LAMP2:NM_001122606:exon7:c.C877A:p.R293R,LAMP2:NM_002294:exon7:c.C877A:p.R293R,LAMP2:NM_013995:exon7:c.C877A:p.R293R Xq24 . rs727503118 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
1987 X 120446304 G T Pathogenic LAMP2 . . . . . . . . . . X 120446304 120446304 G T splicing LAMP2 NM_001122606:exon6:c.864+1C>A,NM_002294:exon6:c.864+1C>A,NM_013995:exon6:c.864+1C>A . . Xq24 . rs727503119 . . . . . . . . 1 D . . . . . . . 5.272 25.7 0.995 0.982 D . . . . . . 5.53 0.871 0.935 0.980 0.998 15.486 Deleterious (FATHMM)
1988 X 120446374 C A Pathogenic/Likely pathogenic LAMP2 . . . . . . . . . . X 120446374 120446374 C A exonic LAMP2 . synonymous SNV LAMP2:NM_001122606:exon6:c.C795T:p.C265C,LAMP2:NM_002294:exon6:c.C795T:p.C265C,LAMP2:NM_013995:exon6:c.C795T:p.C265C Xq24 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
1989 X 120455461 G A Pathogenic LAMP2 . . . . . . . . . . X 120455461 120455461 G A exonic LAMP2 . nonsynonymous SNV LAMP2:NM_001122606:exon3:c.G293T:p.W98L,LAMP2:NM_002294:exon3:c.G293T:p.W98L,LAMP2:NM_013995:exon3:c.G293T:p.W98L Xq24 . . 0.547 T 1.0 D 0.999 D 0.000 D 1 D 2.2 M 1.58 T -4.09 D 0.866 4.542 24.3 0.983 0.931 D -0.877 T 0.157 T . . 5.44 0.871 0.931 0.297 0.161 15.581 Tolerated
1990 X 133699902 C T Pathogenic GPC3 . . . . . . . . . . X 133699902 133699902 C T exonic GPC3 . synonymous SNV GPC3:NM_001164619:exon3:c.C997A:p.R333R,GPC3:NM_001164618:exon4:c.C1111A:p.R371R,GPC3:NM_004484:exon4:c.C1159A:p.R387R,GPC3:NM_001164617:exon5:c.C1228A:p.R410R Xq26.2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
1991 X 149482996 G A Pathogenic IDS . . . . . . . . . . X 149482996 149482996 G A exonic IDS . nonsynonymous SNV IDS:NM_000202:exon9:c.G1403T:p.R468L,IDS:NM_001166550:exon9:c.G1133T:p.R378L Xq28 . rs113993946 0.0 D 1.0 D 0.999 D 0.000 D 1 D 2.705 M -6.04 D -6.72 D 0.955 6.880 33 0.998 0.979 D 0.981 D 0.991 D . . 5.37 0.871 0.892 0.997 0.996 18.240 Deleterious
1992 X 149482997 C T Pathogenic IDS . . . . . . . . . . X 149482997 149482997 C T exonic IDS . synonymous SNV IDS:NM_000202:exon9:c.C1402A:p.R468R,IDS:NM_001166550:exon9:c.C1132A:p.R378R Xq28 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
1993 X 149490322 C T Pathogenic IDS . . . . . . . . . . X 149490322 149490322 C T exonic IDS . stopgain IDS:NM_000202:exon7:c.C998A:p.S333X,IDS:NM_001166550:exon7:c.C728A:p.S243X,IDS:NM_006123:exon7:c.C998A:p.S333X Xq28 . . . . . . . . 0.001 N 1 A . . . . . . . 12.121 38 0.994 0.985 D . . . . . . 4.85 0.866 1.048 0.320 0.119 17.275 Deleterious (FATHMM)
1994 X 149503477 G A Pathogenic IDS . . . . . . . . . . X 149503477 149503477 G A exonic IDS . nonsynonymous SNV IDS:NM_000202:exon3:c.G253T:p.A85S,IDS:NM_006123:exon3:c.G253T:p.A85S Xq28 . . 0.339 T 0.996 D 0.934 D 0.000 D 1 D 0.87 L -3.82 D -1.85 N 0.8 6.653 32 0.997 0.928 D 1.051 D 0.925 D . . 4.43 0.871 0.014 0.960 0.732 16.556 Deleterious
1995 X 150598687 G A Pathogenic MTM1 . . . . . . . . . . X 150598687 150598687 G A splicing MTM1 NM_000252:exon4:c.231+1G>A . . Xq28 . rs587783810 . . . . . . . . 1 D . . . . . . . 4.853 24.8 0.995 0.944 D . . . . . . 5.5 0.866 1.048 1.000 1.000 17.123 Deleterious (FATHMM)
1996 X 150645725 C T Pathogenic MTM1 . . . . . . . . . . X 150645725 150645725 C T exonic MTM1 . nonsynonymous SNV MTM1:NM_000252:exon9:c.C721T:p.R241C Xq28 . rs132630305 0.0 D 1.0 D 1.0 D 0.000 D 1 A 4.67 H -4.78 D -7.83 D 0.995 8.099 35 0.999 0.984 D 1.010 D 0.984 D . . 5.93 0.824 0.935 0.999 0.999 19.293 Deleterious
1997 X 150659654 A G Pathogenic MTM1 . . . . . . . . . . X 150659654 150659654 A G intronic MTM1 . . . Xq28 . rs397518445 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . probably Tolerated (Intron)
1998 X 150659664 C T Pathogenic MTM1 . . . . . . . . . . X 150659664 150659664 C T exonic MTM1 . stopgain MTM1:NM_000252:exon12:c.C1261T:p.R421X Xq28 . rs587783771 . . . . . . 0.000 D 1 A . . . . . . . 12.468 39 0.996 0.847 D . . . . . . 4.25 0.005 0.163 0.997 1.000 11.823 Deleterious (FATHMM)
1999 X 153725687 G A Pathogenic ABCD1 . . . . . . . . . . X 153725687 153725687 G A exonic ABCD1 . nonsynonymous SNV ABCD1:NM_000033:exon1:c.G421A:p.A141T Xq28 . rs193922097 0.001 D 1.0 D 0.998 D 0.000 N 1 A 3.03 M -6.55 D -3.6 D 0.819 5.898 27.5 0.999 0.948 D 1.027 D 0.988 D . . 4.57 0.917 1.038 0.997 0.998 12.232 Deleterious
2000 X 153932410 C T Pathogenic/Likely pathogenic NAA10 . . . . . . . . . . X 153932410 153932410 C T exonic NAA10 . nonsynonymous SNV NAA10:NM_001256119:exon5:c.C247A:p.R83S,NAA10:NM_001256120:exon5:c.C229A:p.R77S,NAA10:NM_003491:exon5:c.C247A:p.R83S Xq28 . . 0.001 D 0.976 D 0.865 P 0.000 D 1 D 2.79 M 0.38 T -5.36 D 0.951 5.500 26.2 0.997 0.937 D -0.280 T 0.323 T . . 4.14 -0.045 0.953 0.984 0.999 12.884 Tolerated
2001 X 153964702 C T Pathogenic HCFC1 . . . . . . . . . . X 153964702 153964702 C T exonic HCFC1 . nonsynonymous SNV HCFC1:NM_005334:exon2:c.C218A:p.A73D Xq28 . . 0.009 D 0.991 D 0.938 D 0.000 D 1 D 1.1 L 3.98 T -4.18 D 0.857 6.266 29.0 0.997 0.965 D -1.124 T 0.028 T . . 5.46 0.917 0.998 0.995 0.994 16.995 Tolerated
2002 X 154030911 G A Pathogenic MECP2 . . . . . . . . . . X 154030911 154030911 G A exonic MECP2 . nonsynonymous SNV MECP2:NM_001110792:exon3:c.G953T:p.R318L,MECP2:NM_004992:exon4:c.G917T:p.R306L,MECP2:NM_001316337:exon5:c.G638T:p.R213L Xq28 . rs61751443 0.0 D 0.998 D 0.972 D 0.000 D 1 D 0.805 L -3.3 D -2.06 N 0.864 6.489 30 0.998 0.952 D 0.792 D 0.804 D . . 5.06 0.871 0.837 1.000 1.000 16.204 Deleterious
2003 X 154030912 C T Pathogenic MECP2 . . . . . . . . . . X 154030912 154030912 C T exonic MECP2 . nonsynonymous SNV MECP2:NM_001110792:exon3:c.C952A:p.R318S,MECP2:NM_004992:exon4:c.C916A:p.R306S,MECP2:NM_001316337:exon5:c.C637A:p.R213S Xq28 . . 0.0 D 0.998 D 0.972 D 0.000 D 1 D 0.805 L -3.29 D -0.98 N 0.903 6.054 28.1 0.998 0.983 D 0.678 D 0.798 D . . 5.06 0.917 0.937 1.000 1.000 16.204 Deleterious
2004 X 154030948 C T Pathogenic/Likely pathogenic, risk factor MECP2 . . . . . . . . . . X 154030948 154030948 C T exonic MECP2 . synonymous SNV MECP2:NM_001110792:exon3:c.C916A:p.R306R,MECP2:NM_004992:exon4:c.C880A:p.R294R,MECP2:NM_001316337:exon5:c.C601A:p.R201R Xq28 . . . . . . . . . . 1 D . . . . . . . 0.105 3.663 0.568 0.641 D . . . . . . 3.11 -0.045 0.937 0.987 0.993 11.422 Deleterious (FATHMM)
2005 X 154031020 C T Pathogenic MECP2 . . . . . . . . . . X 154031020 154031020 C T exonic MECP2 . synonymous SNV MECP2:NM_001110792:exon3:c.C844A:p.R282R,MECP2:NM_004992:exon4:c.C808A:p.R270R,MECP2:NM_001316337:exon5:c.C529A:p.R177R Xq28 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
2006 X 154031065 C T Pathogenic MECP2 . . . . . . . . . . X 154031065 154031065 C T exonic MECP2 . synonymous SNV MECP2:NM_001110792:exon3:c.C799A:p.R267R,MECP2:NM_004992:exon4:c.C763A:p.R255R,MECP2:NM_001316337:exon5:c.C484A:p.R162R Xq28 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
2007 X 154031098 C T Pathogenic MECP2 . . . . . . . . . . X 154031098 154031098 C T exonic MECP2 . nonsynonymous SNV MECP2:NM_001110792:exon3:c.C766A:p.Q256K,MECP2:NM_004992:exon4:c.C730A:p.Q244K,MECP2:NM_001316337:exon5:c.C451A:p.Q151K Xq28 . . 0.017 D 0.892 P 0.546 P 0.000 D 1 D 0.46 N -2.51 D -0.12 N 0.742 2.347 18.48 0.974 0.978 D 0.186 D 0.564 D . . 5.48 0.917 0.937 0.988 0.953 17.030 Deleterious
2008 X 154031326 C T Pathogenic MECP2 . . . . . . . . . . X 154031326 154031326 C T exonic MECP2 . synonymous SNV MECP2:NM_001110792:exon3:c.C538A:p.R180R,MECP2:NM_004992:exon4:c.C502A:p.R168R,MECP2:NM_001316337:exon5:c.C223A:p.R75R Xq28 . rs61748421 . . . . . . . . 1 D . . . . . . . 0.282 5.522 0.569 0.910 D . . . . . . 4.59 -0.020 0.006 0.996 0.998 11.396 Deleterious (FATHMM)
2009 X 154031355 C T Pathogenic MECP2 . . . . . . . . . . X 154031355 154031355 C T exonic MECP2 . nonsynonymous SNV MECP2:NM_001110792:exon3:c.C509A:p.T170K,MECP2:NM_004992:exon4:c.C473A:p.T158K,MECP2:NM_001316337:exon5:c.C194A:p.T65K Xq28 . . 0.009 D 1.0 D 0.998 D 0.000 D 1 D 0.84 L -5.81 D -4.27 D 0.884 6.007 27.9 0.994 0.992 D 1.141 D 0.961 D . . 5.48 0.917 0.937 1.000 1.000 17.030 Deleterious
2010 X 154031373 C G Pathogenic MECP2 . . . . . . . . . . X 154031373 154031373 C G exonic MECP2 . synonymous SNV MECP2:NM_001110792:exon3:c.C491C:p.P164P,MECP2:NM_004992:exon4:c.C455C:p.P152P,MECP2:NM_001316337:exon5:c.C176C:p.P59P Xq28 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
2011 X 154031427 C G Pathogenic MECP2 . . . . . . . . . . X 154031427 154031427 C G exonic MECP2 . synonymous SNV MECP2:NM_001110792:exon3:c.C437C:p.S146S,MECP2:NM_004992:exon4:c.C401C:p.S134S,MECP2:NM_001316337:exon5:c.C122C:p.S41S Xq28 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
2012 X 154031431 C T Pathogenic MECP2 . . . . . . . . . . X 154031431 154031431 C T exonic MECP2 . nonsynonymous SNV MECP2:NM_001110792:exon3:c.C433A:p.R145S,MECP2:NM_004992:exon4:c.C397A:p.R133S,MECP2:NM_001316337:exon5:c.C118A:p.R40S Xq28 . . 0.0 D 1.0 D 0.999 D 0.000 D 1 D 3.07 M -4.77 D -6.0 D 0.979 6.265 29.0 0.998 0.991 D 1.097 D 0.969 D . . 5.24 0.917 0.949 1.000 1.000 16.577 Deleterious
2013 X 154032268 C T Pathogenic MECP2 . . . . . . . . . . X 154032268 154032268 C T exonic MECP2 . synonymous SNV MECP2:NM_001110792:exon2:c.C352A:p.R118R,MECP2:NM_004992:exon3:c.C316A:p.R106R,MECP2:NM_001316337:exon4:c.C37A:p.R13R Xq28 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
2014 X 154532269 G T Pathogenic, other G6PD . . . . . . . . . . X 154532269 154532269 G T exonic G6PD . nonsynonymous SNV G6PD:NM_000402:exon12:c.G1466A:p.R489H,G6PD:NM_001042351:exon12:c.G1376A:p.R459H Xq28 . rs72554665 0.063 T 0.041 B 0.014 B 0.000 D 1 D 1.53 L -6.89 D -1.46 N 0.824 5.732 26.9 0.992 0.896 D 1.152 D 0.963 D . . 5.57 0.868 0.931 0.994 0.918 13.883 Deleterious
2015 X 154532390 C T Pathogenic G6PD . . . . . . . . . . X 154532390 154532390 C T exonic G6PD . nonsynonymous SNV G6PD:NM_000402:exon11:c.C1450A:p.R484S,G6PD:NM_001042351:exon11:c.C1360A:p.R454S Xq28 . . 0.001 D 1.0 D 0.992 D 0.000 D 1 D 2.63 M -7.23 D -5.17 D 0.912 6.597 31 0.998 0.952 D 0.991 D 0.992 D . . 4.83 0.913 1.043 0.964 0.995 9.719 Deleterious
2016 X 154533122 G A Pathogenic, other G6PD . . . . . . . . . . X 154533122 154533122 G A exonic G6PD . nonsynonymous SNV G6PD:NM_000402:exon9:c.G961T:p.V321L,G6PD:NM_001042351:exon9:c.G871T:p.V291L Xq28 . . 0.054 T 0.993 D 0.879 P 0.000 D 1 D 2.295 M -5.19 D -2.61 D 0.896 6.021 27.9 0.997 0.984 D 1.100 D 0.960 D . . 5.69 0.871 0.921 0.990 0.997 16.029 Deleterious
2017 X 154533596 G C Pathogenic, other G6PD . . . . . . . . . . X 154533596 154533596 G C exonic G6PD . synonymous SNV G6PD:NM_000402:exon8:c.G934G:p.D312D,G6PD:NM_001042351:exon8:c.G844G:p.D282D Xq28 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
2018 X 154534345 G T Pathogenic, other G6PD . . . . . . . . . . X 154534345 154534345 G T exonic G6PD . nonsynonymous SNV G6PD:NM_000402:exon6:c.G727A:p.V243M,G6PD:NM_001042351:exon6:c.G637A:p.V213M Xq28 . . 0.038 D 0.664 P 0.242 B 0.000 D 1.000 D 1.905 M -7.13 D -1.5 N 0.798 5.692 26.8 0.998 0.858 D 1.049 D 0.970 D . . 4.61 0.871 0.932 1.000 1.000 6.891 Deleterious
2019 X 154534419 C T Pathogenic/Likely pathogenic, other G6PD . . . . . . . . . . X 154534419 154534419 C T exonic G6PD . nonsynonymous SNV G6PD:NM_000402:exon6:c.C653A:p.S218Y,G6PD:NM_001042351:exon6:c.C563A:p.S188Y Xq28 . . 0.004 D 0.706 P 0.536 P 0.000 D 1 D 2.32 M -4.87 D -4.1 D 0.628 5.628 26.6 0.993 0.947 D 1.080 D 0.937 D . . 5.65 0.917 1.045 0.987 0.941 15.929 Deleterious
2020 MT 8993 T G Pathogenic MT-ATP6 . . . . . . . . . . MT 8993 8993 T G intergenic NONE,NONE dist=NONE;dist=NONE . . . . rs199476133 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .
1172 12 112454636 A T Pathogenic/Likely pathogenic PTPN11 . . . . . . . . . . 12 112454636 112454636 A T exonic PTPN11 . nonsynonymous SNV PTPN11:NM_002834:exon5:c.A598T:p.N200Y,PTPN11:NM_080601:exon5:c.A598T:p.N200Y 12q24.13 . rs727503381 0.08 T 0.843 P 0.805 P 0.000 D 1 D 2.75 M -1.11 T -4.61 D 0.813 4.828 24.8 0.985 0.989 D -0.085 T 0.440 T 0.707 0 5.65 1.062 1.119 0.998 1.000 15.868 Tolerated
1173 12 112472954 A G Pathogenic/Likely pathogenic PTPN11 . . . . . . . . . . 12 112472954 112472954 A G exonic PTPN11 . nonsynonymous SNV PTPN11:NM_002834:exon7:c.A767G:p.Q256R,PTPN11:NM_080601:exon7:c.A767G:p.Q256R 12q24.13 . rs397507523 0.086 T 0.118 B 0.23 B 0.000 D 1 D 1.485 L -5.58 D -2.77 D 0.91 4.549 24.3 0.999 0.965 D 1.044 D 0.943 D 0.563 0 5.7 1.062 1.199 0.990 0.998 15.923 Deleterious
1174 12 112472961 G T Pathogenic/Likely pathogenic PTPN11 . . . . . . . . . . 12 112472961 112472961 G T exonic PTPN11 . nonsynonymous SNV PTPN11:NM_002834:exon7:c.G774T:p.E258D,PTPN11:NM_080601:exon7:c.G774T:p.E258D 12q24.13 . rs397516809 0.175 T 0.013 B 0.051 B 0.000 D 1.000 D 1.935 M -5.62 D -2.44 N 0.855 2.615 20.3 0.991 0.838 D 0.719 D 0.924 D 0.563 0 -0.476 -0.310 0.154 0.997 0.999 9.335 Deleterious
1175 12 112472968 C T Pathogenic/Likely pathogenic PTPN11 . . . . . . . . . . 12 112472968 112472968 C T exonic PTPN11 . nonsynonymous SNV PTPN11:NM_002834:exon7:c.C781T:p.L261F,PTPN11:NM_080601:exon7:c.C781T:p.L261F 12q24.13 . rs397507525 0.715 T 0.001 B 0.003 B 0.000 D 1 D 1.385 L -5.69 D -0.48 N 0.843 4.715 24.6 0.935 0.919 D 0.982 D 0.924 D 0.707 0 5.7 0.871 0.935 0.999 1.000 19.797 Deleterious
1176 12 112472989 G T Pathogenic/Likely pathogenic PTPN11 . . . . . . . . . . 12 112472989 112472989 G T exonic PTPN11 . nonsynonymous SNV PTPN11:NM_002834:exon7:c.G802T:p.G268C,PTPN11:NM_080601:exon7:c.G802T:p.G268C 12q24.13 . rs397507527 0.001 D 1.0 D 1.0 D 0.000 D 1 D 3.175 M -5.68 D -8.19 D 0.969 6.915 33 0.997 0.973 D 1.059 D 0.984 D 0.707 0 5.7 0.917 1.048 0.997 0.998 19.797 Deleterious
1177 12 112473023 A G Pathogenic PTPN11 . . . . . . . . . . 12 112473023 112473023 A G exonic PTPN11 . nonsynonymous SNV PTPN11:NM_002834:exon7:c.A836G:p.Y279C,PTPN11:NM_080601:exon7:c.A836G:p.Y279C 12q24.13 . rs121918456 0.0 D 0.939 P 0.827 P 0.000 D 1 A 3.625 H -6.01 D -7.75 D 0.986 4.526 24.3 0.997 0.957 D 1.023 D 0.985 D 0.563 0 5.7 1.062 1.199 1.000 1.000 15.243 Deleterious
1178 12 112473031 A G Pathogenic PTPN11 . . . . . . . . . . 12 112473031 112473031 A G exonic PTPN11 . nonsynonymous SNV PTPN11:NM_002834:exon7:c.A844G:p.I282V,PTPN11:NM_080601:exon7:c.A844G:p.I282V 12q24.13 . rs397507529 0.0 D 0.605 P 0.348 B 0.000 D 1 D 1.78 L -1.71 D -0.88 N 0.809 3.820 23.4 0.996 0.957 D -0.043 T 0.509 D 0.563 0 5.7 1.062 1.199 0.999 1.000 15.243 Deleterious
1179 12 112473033 C G Pathogenic/Likely pathogenic PTPN11 . . . . . . . . . . 12 112473033 112473033 C G exonic PTPN11 . nonsynonymous SNV PTPN11:NM_002834:exon7:c.C846G:p.I282M,PTPN11:NM_080601:exon7:c.C846G:p.I282M 12q24.13 . rs397507530 0.0 D 0.999 D 0.989 D 0.000 D 1.000 D 3.805 H -2.01 D -2.63 D 0.87 3.238 22.8 0.994 0.776 D 0.403 D 0.771 D 0.563 0 1.34 0.033 -0.327 0.998 0.997 4.928 Deleterious
1180 12 112473040 T C Pathogenic PTPN11 . . . . . . . . . . 12 112473040 112473040 T C exonic PTPN11 . nonsynonymous SNV PTPN11:NM_002834:exon7:c.T853C:p.F285L,PTPN11:NM_080601:exon7:c.T853C:p.F285L 12q24.13 . rs397507531 0.031 D 0.837 P 0.688 P 0.000 D 1 D 1.665 L -5.54 D -5.07 D 0.926 4.754 24.7 0.998 0.942 D 1.094 D 0.951 D 0.563 0 5.7 0.991 1.061 1.000 0.999 15.243 Deleterious
1181 12 112477651 T G Pathogenic PTPN11 . . . . . . . . . . 12 112477651 112477651 T G exonic PTPN11 . nonsynonymous SNV PTPN11:NM_002834:exon8:c.T854G:p.F285C,PTPN11:NM_080601:exon8:c.T854G:p.F285C 12q24.13 . rs121918463 0.005 D 0.991 D 0.937 D 0.000 D 1 D 2.6 M -5.69 D -6.96 D 0.981 4.489 24.3 0.993 0.996 D 1.081 D 0.976 D 0.490 0 5.25 0.991 1.056 1.000 0.993 15.221 Deleterious
1182 12 112477651 T C Pathogenic PTPN11 . . . . . . . . . . 12 112477651 112477651 T C exonic PTPN11 . nonsynonymous SNV PTPN11:NM_002834:exon8:c.T854C:p.F285S,PTPN11:NM_080601:exon8:c.T854C:p.F285S 12q24.13 . rs121918463 0.001 D 1.0 D 0.999 D 0.000 D 1 A 3.035 M -5.68 D -7.0 D 0.974 4.629 24.5 0.999 0.989 D 1.064 D 0.981 D 0.490 0 5.25 0.991 1.056 1.000 0.993 15.221 Deleterious
1183 12 112477652 T G Pathogenic PTPN11 . . . . . . . . . . 12 112477652 112477652 T G exonic PTPN11 . nonsynonymous SNV PTPN11:NM_002834:exon8:c.T855G:p.F285L,PTPN11:NM_080601:exon8:c.T855G:p.F285L 12q24.13 . rs397516810 0.031 D 0.837 P 0.688 P 0.000 D 1.000 D 1.665 L -5.54 D -5.07 D 0.926 3.378 22.9 0.996 0.980 D 0.867 D 0.934 D 0.490 0 -1.33 0.991 0.144 1.000 0.995 9.984 Deleterious
1184 12 112477719 A G Pathogenic PTPN11 . . . . . . . . . . 12 112477719 112477719 A G exonic PTPN11 . nonsynonymous SNV PTPN11:NM_002834:exon8:c.A922G:p.N308D,PTPN11:NM_080601:exon8:c.A922G:p.N308D 12q24.13 7.7e-05 rs28933386 0.016 D 0.346 B 0.311 B 0.000 D 1 A 3.82 H -5.98 D -4.38 D 0.534 3.027 22.3 0.996 0.998 D 1.167 D 0.977 D 0.490 0 4.5 1.062 1.193 1.000 0.999 11.338 Deleterious
1185 12 112477720 A C Pathogenic PTPN11 . . . . . . . . . . 12 112477720 112477720 A C exonic PTPN11 . nonsynonymous SNV PTPN11:NM_002834:exon8:c.A923C:p.N308T,PTPN11:NM_080601:exon8:c.A923C:p.N308T 12q24.13 . rs121918455 0.001 D 0.986 D 0.896 P 0.000 D 1 D 3.615 H -5.93 D -5.45 D 0.6 4.077 23.7 0.997 0.999 D 1.017 D 0.986 D 0.490 0 5.64 1.062 1.193 1.000 0.998 15.913 Deleterious
1186 12 112477720 A G Pathogenic PTPN11 . . . . . . . . . . 12 112477720 112477720 A G exonic PTPN11 . nonsynonymous SNV PTPN11:NM_002834:exon8:c.A923G:p.N308S,PTPN11:NM_080601:exon8:c.A923G:p.N308S 12q24.13 . rs121918455 0.099 T 0.342 B 0.114 B 0.000 D 1 A 1.725 L -5.44 D -4.58 D 0.285 2.615 20.3 0.998 0.999 D 1.112 D 0.919 D 0.490 0 5.64 1.062 1.193 1.000 0.998 15.913 Deleterious
1187 12 112488444 G T Pathogenic PTPN11 . . . . . . . . . . 12 112488444 112488444 G T exonic PTPN11 . nonsynonymous SNV PTPN11:NM_002834:exon12:c.G1381T:p.A461S 12q24.13 . rs121918468 0.016 D 0.981 D 0.993 D 0.000 D 1 D 3.56 H -6.18 D -2.87 D 0.847 6.429 29.7 0.998 0.998 D 0.984 D 0.990 D 0.707 0 5.05 0.917 0.953 0.966 0.972 18.770 Deleterious
1188 12 112488444 G A Pathogenic PTPN11 . . . . . . . . . . 12 112488444 112488444 G A exonic PTPN11 . nonsynonymous SNV PTPN11:NM_002834:exon12:c.G1381A:p.A461T 12q24.13 . rs121918468 0.001 D 1.0 D 0.999 D 0.000 D 1 A 3.45 M -6.19 D -3.83 D 0.901 6.971 33 0.999 0.997 D 0.994 D 0.990 D 0.707 0 5.05 0.917 0.953 0.966 0.972 18.770 Deleterious
1189 12 112488454 G C Pathogenic PTPN11 . . . . . . . . . . 12 112488454 112488454 G C exonic PTPN11 . nonsynonymous SNV PTPN11:NM_002834:exon12:c.G1391C:p.G464A 12q24.13 . rs121918469 0.0 D 1.0 D 1.0 D 0.000 D 1 A 4.86 H -6.33 D -5.75 D 0.982 6.350 29.4 0.998 0.999 D 0.906 D 0.994 D 0.563 0 5.05 0.917 0.953 1.000 1.000 18.770 Deleterious
1190 12 112488465 A C Pathogenic PTPN11 . . . . . . . . . . 12 112488465 112488465 A C exonic PTPN11 . nonsynonymous SNV PTPN11:NM_002834:exon12:c.A1402C:p.T468P 12q24.13 . rs397507537 0.001 D 1.0 D 0.998 D 0.000 D 1 D 4.585 H -6.13 D -5.58 D 0.986 6.186 28.6 0.997 0.998 D 0.931 D 0.993 D 0.707 0 5.05 1.062 1.088 0.984 0.983 15.091 Deleterious
1191 12 112488466 C T Pathogenic/Likely pathogenic, not provided PTPN11 . . . . . . . . . . 12 112488466 112488466 C T exonic PTPN11 . nonsynonymous SNV PTPN11:NM_002834:exon12:c.C1403T:p.T468M 12q24.13 . rs121918457 0.0 D 1.0 D 0.994 D 0.000 D 1 A 3.34 M -6.11 D -5.58 D 0.977 7.303 34 0.999 0.997 D 1.004 D 0.989 D 0.707 0 5.05 0.871 0.852 0.980 0.971 18.770 Deleterious
1192 12 112489047 C T Pathogenic PTPN11 . . . . . . . . . . 12 112489047 112489047 C T exonic PTPN11 . nonsynonymous SNV PTPN11:NM_002834:exon13:c.C1471T:p.P491S 12q24.13 . rs397507539 0.111 T 0.12 B 0.033 B 0.000 D 1 D 1.34 L -1.69 D -1.42 N 0.942 5.388 26.0 0.996 0.983 D -0.387 T 0.433 T 0.722 0 5.13 0.871 0.935 1.000 0.997 18.936 Tolerated
1193 12 112489047 C A Pathogenic PTPN11 . . . . . . . . . . 12 112489047 112489047 C A exonic PTPN11 . nonsynonymous SNV PTPN11:NM_002834:exon13:c.C1471A:p.P491T 12q24.13 . rs397507539 0.045 D 0.61 P 0.266 B 0.000 D 1 D 2.235 M -1.69 D -2.09 N 0.98 5.237 25.6 0.998 0.987 D -0.034 T 0.532 D 0.722 0 5.13 0.871 0.935 1.000 0.997 18.936 Deleterious
1194 12 112489048 C T Pathogenic PTPN11 . . . . . . . . . . 12 112489048 112489048 C T exonic PTPN11 . nonsynonymous SNV PTPN11:NM_002834:exon13:c.C1472T:p.P491L 12q24.13 . rs397507540 0.037 D 0.532 P 0.197 B 0.000 D 1 D 1.17 L -1.54 D -3.23 D 0.975 6.152 28.5 0.999 0.983 D -0.473 T 0.363 T 0.722 0 5.13 0.871 0.935 1.000 0.997 18.936 Tolerated
1195 12 112489048 C A Pathogenic PTPN11 . . . . . . . . . . 12 112489048 112489048 C A exonic PTPN11 . nonsynonymous SNV PTPN11:NM_002834:exon13:c.C1472A:p.P491H 12q24.13 . rs397507540 0.057 T 0.971 D 0.835 P 0.000 D 1 D 2.235 M -1.72 D -1.58 N 0.95 5.747 27.0 0.989 0.987 D 0.188 D 0.659 D 0.722 0 5.13 0.871 0.935 1.000 0.997 18.936 Deleterious
1196 12 112489068 C T Pathogenic PTPN11 . . . . . . . . . . 12 112489068 112489068 C T exonic PTPN11 . nonsynonymous SNV PTPN11:NM_002834:exon13:c.C1492T:p.R498W 12q24.13 . rs397507541 0.0 D 0.999 D 0.963 D 0.000 D 1 D 4.855 H -2.88 D -7.62 D 0.994 6.429 29.7 0.999 0.918 D 1.032 D 0.929 D 0.722 0 4.11 -0.058 0.935 0.995 0.998 12.820 Deleterious
1197 12 112489069 G T Pathogenic PTPN11 . . . . . . . . . . 12 112489069 112489069 G T exonic PTPN11 . nonsynonymous SNV PTPN11:NM_002834:exon13:c.G1493T:p.R498L 12q24.13 . rs397507542 0.0 D 1.0 D 0.993 D 0.000 D 1 D 4.51 H -2.86 D -6.67 D 0.998 7.802 35 0.999 0.992 D 1.095 D 0.923 D 0.722 0 5.13 0.917 1.048 0.996 0.995 18.936 Deleterious
1198 12 112489078 G A Pathogenic PTPN11 . . . . . . . . . . 12 112489078 112489078 G A exonic PTPN11 . nonsynonymous SNV PTPN11:NM_002834:exon13:c.G1502A:p.R501K 12q24.13 . rs397507543 0.0 D 1.0 D 1.0 D 0.000 D 1 D 4.06 H -7.51 D -2.86 D 0.971 6.780 32 0.998 0.992 D 0.901 D 0.997 D 0.722 0 5.13 0.917 1.048 1.000 1.000 18.936 Deleterious
1199 12 112489080 T G Pathogenic PTPN11 . . . . . . . . . . 12 112489080 112489080 T G exonic PTPN11 . nonsynonymous SNV PTPN11:NM_002834:exon13:c.T1504G:p.S502A 12q24.13 . rs121918458 0.042 D 0.726 P 0.678 P 0.000 D 1 D 1.49 L -5.59 D -2.76 D 0.883 5.268 25.7 0.997 0.986 D 1.104 D 0.957 D 0.722 0 5.13 0.991 1.061 1.000 1.000 15.226 Deleterious
1200 12 112489080 T A Pathogenic PTPN11 . . . . . . . . . . 12 112489080 112489080 T A exonic PTPN11 . nonsynonymous SNV PTPN11:NM_002834:exon13:c.T1504A:p.S502T 12q24.13 . rs121918458 0.002 D 0.808 P 0.664 P 0.000 D 1 A 2.675 M -5.66 D -2.76 D 0.907 6.421 29.7 0.997 0.985 D 1.099 D 0.970 D 0.722 0 5.13 0.991 1.061 1.000 1.000 15.226 Deleterious
1201 12 112489081 C T Pathogenic PTPN11 . . . . . . . . . . 12 112489081 112489081 C T exonic PTPN11 . nonsynonymous SNV PTPN11:NM_002834:exon13:c.C1505T:p.S502L 12q24.13 . rs397507544 0.001 D 1.0 D 0.986 D 0.000 D 1 D 2.245 M -5.61 D -5.52 D 0.964 7.533 34 0.999 0.984 D 1.092 D 0.977 D 0.722 0 5.13 0.871 0.935 1.000 1.000 18.936 Deleterious
1202 12 112489083 G A Pathogenic PTPN11 . . . . . . . . . . 12 112489083 112489083 G A exonic PTPN11 . nonsynonymous SNV PTPN11:NM_002834:exon13:c.G1507A:p.G503R 12q24.13 . rs397507545 0.001 D 1.0 D 0.999 D 0.000 D 1 D 3.45 M -5.83 D -7.26 D 0.979 7.084 33 0.999 0.992 D 1.018 D 0.988 D 0.722 0 5.13 0.917 1.048 1.000 1.000 18.936 Deleterious
1203 12 112489083 G C Pathogenic PTPN11 . . . . . . . . . . 12 112489083 112489083 G C exonic PTPN11 . nonsynonymous SNV PTPN11:NM_002834:exon13:c.G1507C:p.G503R 12q24.13 . rs397507545 0.001 D 1.0 D 0.999 D 0.000 D 1 D 3.45 M -5.83 D -7.26 D 0.979 6.934 33 0.999 0.993 D 1.018 D 0.988 D 0.722 0 5.13 0.917 1.048 1.000 1.000 18.936 Deleterious
1204 12 112489086 A G Pathogenic PTPN11 . . . . . . . . . . 12 112489086 112489086 A G exonic PTPN11 . nonsynonymous SNV PTPN11:NM_002834:exon13:c.A1510G:p.M504V 12q24.13 . rs397507547 0.002 D 0.996 D 0.948 D 0.000 D 1 D 3.535 H -1.86 D -3.48 D 0.954 5.574 26.4 0.996 0.989 D 0.871 D 0.810 D 0.722 0 5.13 1.062 1.199 1.000 1.000 15.226 Deleterious
1205 12 112489093 A C Pathogenic PTPN11 . . . . . . . . . . 12 112489093 112489093 A C exonic PTPN11 . nonsynonymous SNV PTPN11:NM_002834:exon13:c.A1517C:p.Q506P 12q24.13 . rs397507548 0.001 D 0.869 P 0.825 P 0.000 D 1 D 3.58 H -2.08 D -5.51 D 0.992 6.081 28.2 0.994 0.990 D 0.886 D 0.823 D 0.722 0 5.13 1.062 1.199 1.000 1.000 15.226 Deleterious
1206 12 112489104 C G Pathogenic PTPN11 . . . . . . . . . . 12 112489104 112489104 C G exonic PTPN11 . nonsynonymous SNV PTPN11:NM_002834:exon13:c.C1528G:p.Q510E 12q24.13 . rs397507549 0.001 D 1.0 D 0.99 D 0.000 D 1 D 4.02 H -6.36 D -2.73 D 0.983 5.986 27.8 0.995 0.988 D 0.946 D 0.993 D 0.722 0 5.13 0.871 0.935 1.000 1.000 18.936 Deleterious
1207 12 112489105 A C Pathogenic PTPN11 . . . . . . . . . . 12 112489105 112489105 A C exonic PTPN11 . nonsynonymous SNV PTPN11:NM_002834:exon13:c.A1529C:p.Q510P 12q24.13 . rs121918470 0.001 D 1.0 D 0.999 D 0.000 D 1 D 4.48 H -6.39 D -5.22 D 0.996 5.846 27.3 0.995 0.990 D 0.921 D 0.994 D 0.722 0 5.13 1.062 1.199 1.000 1.000 15.226 Deleterious
1208 12 114385521 G A Pathogenic/Likely pathogenic TBX5 . . . . . . . . . . 12 114385521 114385521 G A exonic TBX5 . nonsynonymous SNV TBX5:NM_080717:exon6:c.G560T:p.R187L,TBX5:NM_000192:exon7:c.G710T:p.R237L,TBX5:NM_181486:exon7:c.G710T:p.R237L 12q24.21 . . 0.0 D 1.0 D 0.999 D 0.000 D 1 D 2.03 M -2.64 D -5.89 D 0.983 8.175 35 0.999 0.988 D 0.681 D 0.827 D 0.487 0 5.27 0.871 0.935 1.000 1.000 18.888 Deleterious
1209 12 120727115 C T Pathogenic/Likely pathogenic ACADS . . . . . . . . . . 12 120727115 120727115 C T exonic ACADS . nonsynonymous SNV ACADS:NM_000017:exon2:c.C136T:p.R46W,ACADS:NM_001302554:exon2:c.C136T:p.R46W 12q24.31 . rs121908003 0.0 D 1.0 D 0.998 D 0.000 D 1 A 4.47 H -7.06 D -6.78 D 0.886 7.377 34 0.999 0.785 D 0.940 D 0.995 D 0.732 0 3.56 0.871 0.848 0.999 1.000 11.766 Deleterious
1210 12 120737094 C T Pathogenic ACADS . . . . . . . . . . 12 120737094 120737094 C T exonic ACADS . nonsynonymous SNV ACADS:NM_000017:exon3:c.C319T:p.R107C,ACADS:NM_001302554:exon3:c.C319T:p.R107C 12q24.31 0.0008 rs61732144 0.0 D 1.0 D 0.999 D 0.000 D 1 A 4.365 H -6.93 D -7.78 D 0.929 7.242 34 0.999 0.818 D 0.930 D 0.995 D 0.706 0 3.88 0.871 0.852 0.992 0.955 13.511 Deleterious
1211 12 120737893 T C Pathogenic/Likely pathogenic ACADS . . . . . . . . . . 12 120737893 120737893 T C exonic ACADS . nonsynonymous SNV ACADS:NM_000017:exon5:c.T529C:p.W177R 12q24.31 0.0023 rs57443665 0.0 D 0.995 D 0.978 D 0.000 D 1 D 3.86 H -3.89 D -8.76 D 0.989 5.153 25.4 0.995 0.956 D 0.924 D 0.930 D 0.706 0 5.16 0.991 0.964 0.848 0.534 14.980 Deleterious
1212 12 120739347 C T Pathogenic/Likely pathogenic ACADS . . . . . . . . . . 12 120739347 120739347 C T exonic ACADS . nonsynonymous SNV ACADS:NM_000017:exon10:c.C1138T:p.R380W,ACADS:NM_001302554:exon10:c.C1126T:p.R376W 12q24.31 . rs28940875 0.0 D 1.0 D 1.0 D 0.000 D 1 A 3.935 H -4.37 D -7.82 D 0.958 6.202 28.7 0.999 0.893 D 1.091 D 0.964 D 0.718 0 3.84 0.871 0.048 0.955 0.925 14.290 Deleterious
1213 13 20188965 A G Pathogenic GJB2 . . . . . . . . . . 13 20188965 20188965 A G exonic GJB2 . nonsynonymous SNV GJB2:NM_004004:exon2:c.A617C:p.N206T 13q12.11 . . 0.095 T 1.0 D 0.993 D 0.000 D 1 D 2.2 M -3.83 D -4.69 D 0.544 2.665 20.6 0.991 0.954 D 0.959 D 0.903 D 0.549 0 4.45 0.991 0.114 0.998 0.448 13.048 Deleterious
1214 13 20189031 G C Pathogenic/Likely pathogenic GJB2 . . . . . . . . . . 13 20189031 20189031 G C exonic GJB2 . synonymous SNV GJB2:NM_004004:exon2:c.G551G:p.R184R 13q12.11 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
1215 13 20189155 C T Pathogenic GJB2 . . . . . . . . . . 13 20189155 20189155 C T exonic GJB2 . synonymous SNV GJB2:NM_004004:exon2:c.C427A:p.R143R 13q12.11 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
1216 13 20189166 G A Pathogenic/Likely pathogenic GJB2 . . . . . . . . . . 13 20189166 20189166 G A exonic GJB2 . nonsynonymous SNV GJB2:NM_004004:exon2:c.G416T:p.S139I 13q12.11 . . 0.002 D 1.0 D 0.999 D 0.000 D 1 D 2.43 M -4.6 D -5.49 D 0.938 6.639 32 0.997 0.972 D 1.102 D 0.957 D 0.677 0 5.47 0.871 0.852 1.000 0.999 19.695 Deleterious
1217 13 20189212 C T Pathogenic GJB2 . . . . . . . . . . 13 20189212 20189212 C T exonic GJB2 . nonsynonymous SNV GJB2:NM_004004:exon2:c.C370A:p.Q124K 13q12.11 . . 0.671 T 0.0 B 0.001 B 0.000 D 0.793 N 0.755 N -4.33 D -0.5 N 0.144 -0.994 0.016 0.665 0.507 D 0.086 D 0.755 D 0.765 0 3.65 0.917 0.953 0.993 0.938 10.365 Deleterious
1218 13 20189217 A T Pathogenic/Likely pathogenic GJB2 . . . . . . . . . . 13 20189217 20189217 A T exonic GJB2 . synonymous SNV GJB2:NM_004004:exon2:c.A365A:p.K122K 13q12.11 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
1219 13 20189284 C T Pathogenic/Likely pathogenic GJB2 . . . . . . . . . . 13 20189284 20189284 C T exonic GJB2 . nonsynonymous SNV GJB2:NM_004004:exon2:c.C298A:p.H100N 13q12.11 . . 0.168 T 0.632 P 0.318 B 0.000 D 1.000 D 1.74 L -5.36 D -2.51 D 0.445 1.630 14.02 0.991 0.976 D 1.089 D 0.937 D 0.598 0 5.33 0.917 0.953 0.997 0.948 19.382 Deleterious
1220 13 20189299 G A Pathogenic/Likely pathogenic GJB2 . . . . . . . . . . 13 20189299 20189299 G A exonic GJB2 . nonsynonymous SNV GJB2:NM_004004:exon2:c.G283T:p.V95L 13q12.11 . . 0.002 D 0.081 B 0.225 B 0.001 N 1 D 3.3 M -5.54 D -2.84 D 0.705 5.108 25.3 0.987 0.945 D 1.101 D 0.962 D 0.598 0 4.24 0.033 0.852 0.985 0.996 12.702 Deleterious
1221 13 20189313 T C Pathogenic GJB2 . . . . . . . . . . 13 20189313 20189313 T C exonic GJB2 . nonsynonymous SNV GJB2:NM_004004:exon2:c.T269G:p.L90R 13q12.11 . . 0.0 D 1.0 D 0.999 D 0.000 D 1 D 3.215 M -5.63 D -5.68 D 0.996 5.320 25.8 0.998 0.981 D 1.049 D 0.983 D 0.598 0 5.33 1.062 1.088 0.981 0.887 15.593 Deleterious
1222 13 20189332 G T Pathogenic/Likely pathogenic GJB2 . . . . . . . . . . 13 20189332 20189332 G T exonic GJB2 . nonsynonymous SNV GJB2:NM_004004:exon2:c.G250A:p.V84M 13q12.11 . rs104894409 0.0 D 1.0 D 1.0 D 0.000 D 1 D 2.97 M -5.97 D -3.0 D 0.926 6.682 32 0.999 0.972 D 1.046 D 0.986 D 0.598 0 5.33 0.871 0.852 0.989 0.907 19.382 Deleterious
1223 13 20189332 G C Pathogenic GJB2 . . . . . . . . . . 13 20189332 20189332 G C exonic GJB2 . synonymous SNV GJB2:NM_004004:exon2:c.G250G:p.V84V 13q12.11 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
1224 13 20189352 G A Pathogenic/Likely pathogenic GJB2 . . . . . . . . . . 13 20189352 20189352 G A exonic GJB2 . nonsynonymous SNV GJB2:NM_004004:exon2:c.G230T:p.W77L 13q12.11 . . 0.0 D 1.0 D 1.0 D 0.000 D 1 D 3.655 H -6.04 D -12.96 D 0.947 6.645 32 0.987 0.976 D 1.006 D 0.989 D 0.598 0 5.33 0.871 0.852 0.998 0.984 19.382 Deleterious
1225 13 20189353 T C Pathogenic GJB2 . . . . . . . . . . 13 20189353 20189353 T C exonic GJB2 . nonsynonymous SNV GJB2:NM_004004:exon2:c.T229G:p.W77G 13q12.11 . . 0.0 D 1.0 D 1.0 D 0.000 D 1 D 3.655 H -6.12 D -12.96 D 0.98 5.358 25.9 0.980 0.980 D 0.983 D 0.990 D 0.598 0 5.18 1.062 1.088 0.997 0.979 15.329 Deleterious
1226 13 20189358 G A Pathogenic GJB2 . . . . . . . . . . 13 20189358 20189358 G A exonic GJB2 . nonsynonymous SNV GJB2:NM_004004:exon2:c.G224T:p.R75L 13q12.11 . . 0.0 D 1.0 D 1.0 D 0.000 D 1 D 3.64 H -5.99 D -7.0 D 0.987 7.443 34 0.999 0.976 D 1.003 D 0.989 D 0.598 0 5.18 0.871 0.852 0.996 0.990 19.059 Deleterious
1227 13 20189413 C T Pathogenic GJB2 . . . . . . . . . . 13 20189413 20189413 C T exonic GJB2 . nonsynonymous SNV GJB2:NM_004004:exon2:c.C169A:p.Q57K 13q12.11 . . 0.0 D 1.0 D 0.998 D 0.000 D 1 D 3.605 H -5.74 D -3.96 D 0.919 4.904 24.9 0.995 0.985 D 1.032 D 0.986 D 0.765 0 5.32 0.917 0.953 0.904 0.548 19.372 Deleterious
1228 13 20189443 G T Pathogenic GJB2 . . . . . . . . . . 13 20189443 20189443 G T exonic GJB2 . nonsynonymous SNV GJB2:NM_004004:exon2:c.G139A:p.E47K 13q12.11 . . 0.001 D 1.0 D 1.0 D 0.000 D 1 D 3.62 H -6.06 D -3.86 D 0.995 6.366 29.4 0.999 0.968 D 1.003 D 0.989 D 0.677 0 5.21 0.871 0.852 1.000 0.908 19.121 Deleterious
1229 13 20189451 G A Pathogenic/Likely pathogenic GJB2 . . . . . . . . . . 13 20189451 20189451 G A exonic GJB2 . nonsynonymous SNV GJB2:NM_004004:exon2:c.G131T:p.W44L 13q12.11 . . 0.0 D 1.0 D 1.0 D 0.000 D 1 D 3.365 M -5.65 D -12.83 D 0.901 6.511 31 0.988 0.974 D 1.043 D 0.985 D 0.598 0 5.21 0.871 0.852 1.000 0.994 19.121 Deleterious
1230 13 20189473 G A Pathogenic/Likely pathogenic GJB2 . . . . . . . . . . 13 20189473 20189473 G A exonic GJB2 . nonsynonymous SNV GJB2:NM_004004:exon2:c.G109T:p.V37F 13q12.11 . rs72474224 0.129 T 1.0 D 1.0 D 0.000 D 1 D 2.685 M -5.51 D -4.29 D 0.921 4.158 23.8 0.986 0.968 D 1.095 D 0.975 D 0.534 0 5.21 0.871 0.852 0.996 0.515 19.121 Deleterious
1231 13 20189511 G A Pathogenic GJB2 . . . . . . . . . . 13 20189511 20189511 G A exonic GJB2 . nonsynonymous SNV GJB2:NM_004004:exon2:c.G71T:p.W24L 13q12.11 . . 0.001 D 1.0 D 1.0 D 0.000 D 1 D 2.46 M -5.84 D -12.72 D 0.897 5.282 25.7 0.987 0.976 D 1.071 D 0.982 D 0.534 0 5.21 0.871 0.852 0.998 0.977 19.121 Deleterious
1232 13 20189538 A C Pathogenic/Likely pathogenic GJB2 . . . . . . . . . . 13 20189538 20189538 A C exonic GJB2 . nonsynonymous SNV GJB2:NM_004004:exon2:c.A44G:p.K15R 13q12.11 . . 0.221 T 0.003 B 0.004 B 0.000 D 0.980 D 0.095 N -5.44 D -1.22 N 0.193 -0.196 1.119 0.978 0.751 D 0.570 D 0.839 D 0.598 0 5.36 0.991 0.964 0.999 0.931 8.200 Deleterious
1233 13 20189547 G T Pathogenic/Likely pathogenic GJB2 . . . . . . . . . . 13 20189547 20189547 G T exonic GJB2 . nonsynonymous SNV GJB2:NM_004004:exon2:c.G35A:p.G12D 13q12.11 . rs1801002 0.03 D 1.0 D 0.993 D 0.000 D 1 D 2.2 M -5.38 D -6.35 D 0.979 3.761 23.3 0.998 0.977 D 1.101 D 0.971 D 0.598 0 5.36 0.871 0.852 0.999 0.591 19.444 Deleterious
1234 13 20192782 G A Pathogenic GJB2 . . . . . . . . . . 13 20192782 20192782 G A splicing GJB2 . . . 13q12.11 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .
1235 13 20223450 G A Pathogenic GJB6 . . . . . . . . . . 13 20223450 20223450 G A exonic GJB6 . nonsynonymous SNV GJB6:NM_001110221:exon3:c.G31T:p.G11W,GJB6:NM_006783:exon3:c.G31T:p.G11W,GJB6:NM_001110220:exon4:c.G31T:p.G11W,GJB6:NM_001110219:exon5:c.G31T:p.G11W 13q12.11 . . 0.001 D 1.0 D 0.99 D 0.000 D 1.000 D 1.87 L -5.44 D -4.0 D 0.764 5.322 25.8 0.993 0.975 D 1.083 D 0.962 D 0.487 0 5.38 0.871 0.935 0.772 0.027 12.490 Deleterious
1236 13 23324452 G A Pathogenic SGCG . . . . . . . . . . 13 23324452 23324452 G A exonic SGCG . nonsynonymous SNV SGCG:NM_000231:exon8:c.G787A:p.E263K 13q12.12 . rs104894423 0.003 D 1.0 D 0.999 D 0.000 D 1 A 2.83 M -3.32 D -2.57 D 0.981 6.670 32 0.999 0.957 D 0.841 D 0.892 D 0.601 0 5.28 0.917 0.953 0.998 0.914 18.911 Deleterious
1237 13 31269278 G A Pathogenic B3GLCT . . . . . . . . . . 13 31269278 31269278 G A splicing B3GLCT NM_194318:exon8:c.660+1G>A . . 13q12.3 0.0005 rs80338851 . . . . . . . . 1 A . . . . . . . 6.130 28.4 0.996 0.993 D . . . . 0.075 0 6.08 0.917 1.048 0.968 0.993 20.663 Deleterious (FATHMM)
1238 13 32316462 T G Pathogenic BRCA2 . . . . . . . . . . 13 32316462 32316462 T G exonic BRCA2 . nonsynonymous SNV BRCA2:NM_000059:exon2:c.T2G:p.M1R 13q13.1 . rs80358547 0.0 D 0.998 D 0.994 D 0.000 D 1 D . . 5.51 T -1.44 N 0.762 4.760 24.7 0.980 0.888 D -1.061 T 0.013 T 0.267 1 5.27 0.991 0.913 0.244 0.898 12.847 Tolerated
1239 13 32316463 G A Pathogenic BRCA2 . . . . . . . . . . 13 32316463 32316463 G A exonic BRCA2 . nonsynonymous SNV BRCA2:NM_000059:exon2:c.G3A:p.M1I 13q13.1 . rs80358650 0.0 D 0.998 D 0.991 D 0.000 D 1 D . . 5.61 T -0.96 N 0.917 3.650 23.2 0.997 0.902 D -1.084 T 0.015 T 0.267 1 5.27 0.917 0.902 0.229 0.880 15.961 Tolerated
1240 13 32316528 G C Pathogenic/Likely pathogenic BRCA2 . . . . . . . . . . 13 32316528 32316528 G C splicing BRCA2 NM_000059:exon2:c.67+1G>C . . 13q13.1 . . . . . . . . . . 1 D . . . . . . . 4.719 24.6 0.995 0.903 D . . . . 0.120 0 5.1 0.917 0.902 0.849 0.948 15.580 Deleterious (FATHMM)
1241 13 32316528 G T Pathogenic BRCA2 . . . . . . . . . . 13 32316528 32316528 G T splicing BRCA2 NM_000059:exon2:c.67+1G>T . . 13q13.1 . rs81002796 . . . . . . . . 1 D . . . . . . . 4.767 24.7 0.995 0.899 D . . . . 0.120 0 5.1 0.917 0.902 0.849 0.948 15.580 Deleterious (FATHMM)
1242 13 32316528 G A Pathogenic BRCA2 . . . . . . . . . . 13 32316528 32316528 G A splicing BRCA2 NM_000059:exon2:c.67+1G>A . . 13q13.1 . rs81002796 . . . . . . . . 1 D . . . . . . . 5.204 25.5 0.994 0.887 D . . . . 0.120 0 5.1 0.917 0.902 0.849 0.948 15.580 Deleterious (FATHMM)
1243 13 32316529 T C Pathogenic BRCA2 . . . . . . . . . . 13 32316529 32316529 T C splicing BRCA2 NM_000059:exon2:c.67+2T>C . . 13q13.1 . rs81002885 . . . . . . . . 1 D . . . . . . . 4.426 24.2 0.991 0.855 D . . . . 0.079 0 5.1 0.991 0.913 0.844 0.917 12.536 Deleterious (FATHMM)
1244 13 32325185 G A Pathogenic/Likely pathogenic BRCA2 . . . . . . . . . . 13 32325185 32325185 G A splicing BRCA2 NM_000059:exon4:c.425+1G>A . . 13q13.1 . rs587782590 . . . . . . . . 1 D . . . . . . . 5.723 26.9 0.994 0.917 D . . . . 0.164 0 5.84 0.917 0.953 1.000 0.999 15.639 Deleterious (FATHMM)
1245 13 32326099 A G Pathogenic BRCA2 . . . . . . . . . . 13 32326099 32326099 A G splicing BRCA2 NM_000059:exon5:c.426-2A>G . . 13q13.1 . rs398122779 . . . . . . . . 1 D . . . . . . . 3.204 22.7 0.983 0.969 D . . . . 0.164 0 4.91 1.006 0.822 0.522 0.746 14.539 Deleterious (FATHMM)
1246 13 32326150 G A Pathogenic/Likely pathogenic, not provided BRCA2 . . . . . . . . . . 13 32326150 32326150 G A exonic BRCA2 . nonsynonymous SNV BRCA2:NM_000059:exon5:c.G475A:p.V159M 13q13.1 . rs80358702 0.011 D 1.0 D 0.986 D 0.044 N 1 D 1.905 M 5.67 T -0.76 N 0.668 4.788 24.7 0.998 0.745 D -0.928 T 0.011 T 0.651 0 4.06 0.868 0.725 0.537 0.977 9.443 Tolerated
1247 13 32326151 G T Pathogenic/Likely pathogenic BRCA2 . . . . . . . . . . 13 32326151 32326151 G T splicing BRCA2 NM_000059:exon5:c.475+1G>T . . 13q13.1 . rs81002797 . . . . . . . . 1 D . . . . . . . 4.256 23.9 0.994 0.970 D . . . . 0.106 0 4.91 0.868 0.725 0.576 0.978 18.093 Deleterious (FATHMM)
1248 13 32326497 A G Pathogenic/Likely pathogenic, not provided BRCA2 . . . . . . . . . . 13 32326497 32326497 A G splicing BRCA2 NM_000059:exon7:c.517-2A>G . . 13q13.1 . rs81002858 . . . . . . . . 1 D . . . . . . . 3.147 22.6 0.963 0.972 D . . . . 0.106 0 4.3 1.003 1.083 0.809 0.549 7.534 Deleterious (FATHMM)
1249 13 32326498 G A Pathogenic BRCA2 . . . . . . . . . . 13 32326498 32326498 G A splicing BRCA2 NM_000059:exon7:c.517-1G>A . . 13q13.1 . rs81002849 . . . . . . . . 1 D . . . . . . . 4.178 23.8 0.995 0.990 D . . . . 0.106 0 5.17 0.866 0.949 0.862 0.650 15.937 Deleterious (FATHMM)
1250 13 32326613 G A Pathogenic BRCA2 . . . . . . . . . . 13 32326613 32326613 G A exonic BRCA2 . nonsynonymous SNV BRCA2:NM_000059:exon7:c.G631A:p.V211I 13q13.1 . rs80358871 0.036 D 0.734 P 0.257 B 0.908 N 0.975 N 1.32 L 5.65 T -0.25 N 0.834 5.402 26.0 0.998 0.917 D -0.833 T 0.005 T 0.651 0 5.65 0.917 0.949 0.996 0.999 12.985 Tolerated
1251 13 32326614 G A Pathogenic BRCA2 . . . . . . . . . . 13 32326614 32326614 G A splicing BRCA2 NM_000059:exon7:c.631+1G>A . . 13q13.1 . rs81002897 . . . . . . . . 1 A . . . . . . . 5.552 26.4 0.995 0.993 D . . . . 0.099 0 5.65 0.917 0.949 0.991 0.997 19.715 Deleterious (FATHMM)
1252 13 32326615 T G Pathogenic BRCA2 . . . . . . . . . . 13 32326615 32326615 T G splicing BRCA2 NM_000059:exon7:c.631+2T>G . . 13q13.1 . rs81002899 . . . . . . . . 1 A . . . . . . . 4.456 24.2 0.978 0.988 D . . . . 0.099 0 4.46 0.991 0.961 0.980 0.993 11.434 Deleterious (FATHMM)
1253 13 32329441 A G Pathogenic BRCA2 . . . . . . . . . . 13 32329441 32329441 A G splicing BRCA2 NM_000059:exon8:c.632-2A>G . . 13q13.1 . rs397507842 . . . . . . . . 1 D . . . . . . . 3.287 22.8 0.987 0.968 D . . . . 0.106 0 5.54 1.062 1.178 0.526 0.966 12.350 Deleterious (FATHMM)
1254 13 32331031 G A Pathogenic BRCA2 . . . . . . . . . . 13 32331031 32331031 G A splicing BRCA2 NM_000059:exon9:c.793+1G>A . . 13q13.1 . rs81002846 . . . . . . . . 1 D . . . . . . . 3.473 23.0 0.983 0.894 D . . . . 0.106 0 4.47 0.917 0.998 0.145 0.066 15.826 Deleterious (FATHMM)
1255 13 32333388 G A Pathogenic/Likely pathogenic BRCA2 . . . . . . . . . . 13 32333388 32333388 G A splicing BRCA2 NM_000059:exon10:c.1909+1G>A . . 13q13.1 . rs587781629 . . . . . . . . 1 D . . . . . . . 4.406 24.1 0.991 0.990 D . . . . 0.106 0 5.37 0.917 1.048 0.932 0.905 16.619 Deleterious (FATHMM)
1256 13 32346896 G T Pathogenic/Likely pathogenic BRCA2 . . . . . . . . . . 13 32346896 32346896 G T exonic BRCA2 . nonsynonymous SNV BRCA2:NM_000059:exon13:c.G7007T:p.R2336L 13q13.1 . rs28897743 0.092 T 0.012 B 0.005 B 0.781 N 1 D 1.1 L -1.06 T -0.01 N 0.651 3.426 23.0 0.987 0.859 D -0.685 T 0.340 T 0.615 0 5.03 0.917 1.030 0.882 0.931 13.860 Tolerated
1257 13 32346896 G C Pathogenic BRCA2 . . . . . . . . . . 13 32346896 32346896 G C exonic BRCA2 . nonsynonymous SNV BRCA2:NM_000059:exon13:c.G7007C:p.R2336P 13q13.1 . rs28897743 0.238 T 0.261 B 0.044 B 0.781 N 1 D 1.1 L -1.1 T -0.4 N 0.877 4.481 24.2 0.946 0.900 D -0.712 T 0.314 T 0.615 0 5.03 0.917 1.030 0.882 0.931 13.860 Tolerated
1258 13 32354860 G A Pathogenic/Likely pathogenic BRCA2 . . . . . . . . . . 13 32354860 32354860 G A splicing BRCA2 NM_000059:exon14:c.7008-1G>A . . 13q13.1 . rs786204280 . . . . . . . . 1 D . . . . . . . 4.072 23.7 0.991 0.975 D . . . . 0.099 0 5.66 0.917 1.048 0.548 0.092 18.303 Deleterious (FATHMM)
1259 13 32356611 T G Pathogenic BRCA2 . . . . . . . . . . 13 32356611 32356611 T G splicing BRCA2 NM_000059:exon15:c.7617+2T>G . . 13q13.1 . rs81002843 . . . . . . . . 1 D . . . . . . . 4.878 24.9 0.992 0.982 D . . . . 0.099 0 5.38 0.991 1.061 0.869 0.852 15.692 Deleterious (FATHMM)
1260 13 32357930 G A Pathogenic/Likely pathogenic, not provided BRCA2 . . . . . . . . . . 13 32357930 32357930 G A splicing BRCA2 NM_000059:exon16:c.7805+1G>A . . 13q13.1 . rs81002809 . . . . . . . . 1 D . . . . . . . 5.666 26.7 0.996 0.991 D . . . . 0.164 0 5.15 0.917 0.902 0.864 0.958 18.628 Deleterious (FATHMM)
1261 13 32362521 A G Pathogenic/Likely pathogenic BRCA2 . . . . . . . . . . 13 32362521 32362521 A G splicing BRCA2 NM_000059:exon17:c.7806-2A>G . . 13q13.1 . rs81002836 . . . . . . . . 1 D . . . . . . . 4.964 25.1 0.995 0.996 D . . . . 0.106 0 5.66 1.062 1.199 0.970 0.850 16.182 Deleterious (FATHMM)
1262 13 32362694 G A Pathogenic/Likely pathogenic, not provided BRCA2 . . . . . . . . . . 13 32362694 32362694 G A splicing BRCA2 NM_000059:exon17:c.7976+1G>A . . 13q13.1 . rs81002873 . . . . . . . . 1 D . . . . . . . 5.975 27.7 0.996 0.981 D . . . . 0.156 0 5.66 0.917 1.048 0.965 1.000 20.104 Deleterious (FATHMM)
1263 13 32363178 G C Pathogenic BRCA2 . . . . . . . . . . 13 32363178 32363178 G C splicing BRCA2 NM_000059:exon18:c.7977-1G>C . . 13q13.1 . rs81002874 . . . . . . . . 1 D . . . . . . . 4.871 24.9 0.996 0.994 D . . . . 0.106 0 4.93 0.917 0.998 0.992 0.950 18.510 Deleterious (FATHMM)
1264 13 32363225 A G Pathogenic/Likely pathogenic BRCA2 . . . . . . . . . . 13 32363225 32363225 A G exonic BRCA2 . nonsynonymous SNV BRCA2:NM_000059:exon18:c.A8023G:p.I2675V 13q13.1 . rs397507954 0.0 D 0.999 D 0.995 D 0.000 D 1.000 D 2.19 M -1.95 D -0.3 N 0.66 5.346 25.9 0.999 0.992 D 0.579 D 0.726 D 0.651 0 4.93 1.062 1.140 1.000 1.000 14.879 Deleterious
1265 13 32363534 G A Pathogenic/Likely pathogenic, not provided BRCA2 . . . . . . . . . . 13 32363534 32363534 G A splicing BRCA2 NM_000059:exon18:c.8331+1G>A . . 13q13.1 . rs81002837 . . . . . . . . 1 D . . . . . . . 5.721 26.9 0.996 0.997 D . . . . 0.322 0 5.68 0.917 1.048 0.984 1.000 19.789 Deleterious (FATHMM)
1266 13 32370400 A G Pathogenic/Likely pathogenic BRCA2 . . . . . . . . . . 13 32370400 32370400 A G splicing BRCA2 NM_000059:exon19:c.8332-2A>G . . 13q13.1 . rs587782774 . . . . . . . . 1 D . . . . . . . 5.125 25.4 0.995 0.998 D . . . . 0.164 0 5.33 1.062 1.082 0.847 0.992 15.312 Deleterious (FATHMM)
1267 13 32370401 G T Pathogenic BRCA2 . . . . . . . . . . 13 32370401 32370401 G T splicing BRCA2 NM_000059:exon19:c.8332-1G>T . . 13q13.1 . rs397507979 . . . . . . . . 1 D . . . . . . . 5.413 26.0 0.995 0.999 D . . . . 0.164 0 5.33 0.917 0.948 0.905 0.996 19.029 Deleterious (FATHMM)
1268 13 32370955 G A Pathogenic/Likely pathogenic BRCA2 . . . . . . . . . . 13 32370955 32370955 G A splicing BRCA2 NM_000059:exon20:c.8488-1G>A . . 13q13.1 . rs397507404 . . . . . . . . 1 D . . . . . . . 5.363 25.9 0.995 0.987 D . . . . 0.156 0 5.1 0.868 0.729 0.993 0.923 18.522 Deleterious (FATHMM)
1269 13 32376669 G A Pathogenic/Likely pathogenic BRCA2 . . . . . . . . . . 13 32376669 32376669 G A splicing BRCA2 NM_000059:exon21:c.8633-1G>A . . 13q13.1 . rs398122711 . . . . . . . . 1 D . . . . . . . 3.967 23.6 0.992 0.968 D . . . . 0.156 0 5.32 0.917 0.865 0.103 0.267 16.157 Deleterious (FATHMM)
1270 13 32376791 G A Pathogenic/Likely pathogenic, not provided BRCA2 . . . . . . . . . . 13 32376791 32376791 G A exonic BRCA2 . synonymous SNV BRCA2:NM_000059:exon21:c.G8754A:p.E2918E 13q13.1 . rs80359803 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
1271 13 32376792 G A Pathogenic BRCA2 . . . . . . . . . . 13 32376792 32376792 G A splicing BRCA2 NM_000059:exon21:c.8754+1G>A . . 13q13.1 . rs397508006 . . . . . . . . 1 D . . . . . . . 5.544 26.4 0.996 0.994 D . . . . 0.295 0 5.31 0.913 0.863 0.963 0.976 18.986 Deleterious (FATHMM)
1272 13 32379913 G A Pathogenic BRCA2 . . . . . . . . . . 13 32379913 32379913 G A exonic BRCA2 . synonymous SNV BRCA2:NM_000059:exon23:c.G9117A:p.P3039P 13q13.1 . rs28897756 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
1273 13 32380005 A G Pathogenic BRCA2 . . . . . . . . . . 13 32380005 32380005 A G splicing BRCA2 NM_000059:exon24:c.9118-2A>G . . 13q13.1 . rs81002862 . . . . . . . . 1 D . . . . . . . 3.694 23.3 0.983 0.994 D . . . . 0.164 0 5.51 1.062 1.199 0.027 0.320 15.915 Deleterious (FATHMM)
1274 13 32380006 G A Pathogenic BRCA2 . . . . . . . . . . 13 32380006 32380006 G A splicing BRCA2 NM_000059:exon24:c.9118-1G>A . . 13q13.1 . . . . . . . . . . 1 D . . . . . . . 4.191 23.8 0.991 0.987 D . . . . 0.164 0 5.51 0.917 1.048 0.028 0.388 19.776 Deleterious (FATHMM)
1275 13 32394688 G C Pathogenic/Likely pathogenic BRCA2 . . . . . . . . . . 13 32394688 32394688 G C splicing BRCA2 NM_000059:exon25:c.9257-1G>C . . 13q13.1 . rs81002889 . . . . . . . . 1 D . . . . . . . 3.576 23.2 0.992 0.981 D . . . . 0.164 0 5.9 0.917 1.048 0.777 0.870 18.453 Deleterious (FATHMM)
1276 13 32396896 A C Pathogenic/Likely pathogenic, not provided BRCA2 . . . . . . . . . . 13 32396896 32396896 A C splicing BRCA2 NM_000059:exon26:c.9502-2A>C . . 13q13.1 . rs81002868 . . . . . . . . 1 D . . . . . . . 3.874 23.5 0.982 0.989 D . . . . 0.156 0 5.94 1.062 1.199 0.969 0.997 14.136 Deleterious (FATHMM)
1277 13 32397045 G C Pathogenic BRCA2 . . . . . . . . . . 13 32397045 32397045 G C splicing BRCA2 NM_000059:exon26:c.9648+1G>C . . 13q13.1 . rs730881573 . . . . . . . . 1 D . . . . . . . 4.769 24.7 0.994 0.991 D . . . . 0.295 0 5.73 0.917 0.998 0.648 0.987 17.047 Deleterious (FATHMM)
1278 13 50945445 G A Pathogenic RNASEH2B . . . . . . . . . . 13 50945445 50945445 G A exonic RNASEH2B . nonsynonymous SNV RNASEH2B:NM_001142279:exon7:c.G529A:p.A177T,RNASEH2B:NM_024570:exon7:c.G529A:p.A177T 13q14.3 0.0020 rs75184679 0.234 T 0.992 D 0.886 P 0.000 D 0.934 A 2.67 M -3.97 D -1.7 N 0.773 2.562 19.86 0.997 0.819 D 0.949 D 0.921 D 0.732 0 5.78 0.917 1.048 0.132 0.104 17.508 Deleterious
1279 13 51937342 C T Pathogenic/Likely pathogenic ATP7B . . . . . . . . . . 13 51937342 51937342 C T exonic ATP7B . synonymous SNV ATP7B:NM_001005918:exon15:c.C3334A:p.R1112R,ATP7B:NM_000053:exon19:c.C3955A:p.R1319R,ATP7B:NM_001243182:exon20:c.C3622A:p.R1208R 13q14.3 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
1280 13 51939091 C T Pathogenic/Likely pathogenic ATP7B . . . . . . . . . . 13 51939091 51939091 C T exonic ATP7B . nonsynonymous SNV ATP7B:NM_001005918:exon13:c.C3038A:p.T1013K,ATP7B:NM_000053:exon17:c.C3659A:p.T1220K,ATP7B:NM_001243182:exon18:c.C3326A:p.T1109K 13q14.3 . . 0.001 D 1.0 D 1.0 D 0.000 D 1 D 3.86 H -4.7 D -5.17 D 0.986 7.337 34 0.993 0.991 D 1.077 D 0.974 D 0.737 0 5.15 0.917 1.048 0.989 0.963 18.811 Deleterious
1281 13 51944145 C A Pathogenic ATP7B . . . . . . . . . . 13 51944145 51944145 C A exonic ATP7B . synonymous SNV ATP7B:NM_001005918:exon10:c.C2586T:p.H862H,ATP7B:NM_000053:exon14:c.C3207T:p.H1069H,ATP7B:NM_001243182:exon15:c.C2874T:p.H958H 13q14.3 . rs76151636 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
1282 13 51946369 C T Pathogenic ATP7B . . . . . . . . . . 13 51946369 51946369 C T exonic ATP7B . nonsynonymous SNV ATP7B:NM_001005918:exon9:c.C2354A:p.P785H,ATP7B:NM_000053:exon13:c.C2975A:p.P992H,ATP7B:NM_001243182:exon14:c.C2642A:p.P881H 13q14.3 . . 0.0 D 1.0 D 1.0 D 0.000 D 1 D 4.47 H -2.37 D -7.85 D 0.98 5.991 27.8 0.995 0.991 D 1.087 D 0.924 D 0.554 0 5.15 0.917 1.048 0.994 0.571 18.812 Deleterious
1283 13 51946414 C T Pathogenic ATP7B . . . . . . . . . . 13 51946414 51946414 C T exonic ATP7B . nonsynonymous SNV ATP7B:NM_001005918:exon9:c.C2309A:p.T770K,ATP7B:NM_000053:exon13:c.C2930A:p.T977K,ATP7B:NM_001243182:exon14:c.C2597A:p.T866K 13q14.3 . . 0.002 D 1.0 D 1.0 D 0.000 D 1 D 3.22 M -2.73 D -4.73 D 0.967 6.776 32 0.986 0.991 D 0.976 D 0.884 D 0.638 0 5.15 0.917 1.048 0.985 0.985 18.812 Deleterious
1284 13 51950132 G A Pathogenic ATP7B . . . . . . . . . . 13 51950132 51950132 G A exonic ATP7B . stopgain ATP7B:NM_001005918:exon8:c.G2119T:p.G707X,ATP7B:NM_000053:exon11:c.G2605T:p.G869X,ATP7B:NM_001243182:exon12:c.G2272T:p.G758X 13q14.3 . rs191312027 . . . . . . 0.000 D 1 A . . . . . . . 13.749 43 0.993 0.991 D . . . . 0.693 0 5.69 0.871 0.935 0.987 0.093 19.873 Deleterious (FATHMM)
1285 13 51950328 C T Pathogenic/Likely pathogenic ATP7B . . . . . . . . . . 13 51950328 51950328 C T exonic ATP7B . nonsynonymous SNV ATP7B:NM_001005918:exon7:c.C2033A:p.P678Q,ATP7B:NM_000053:exon10:c.C2519A:p.P840Q,ATP7B:NM_001243182:exon11:c.C2186A:p.P729Q 13q14.3 . . 0.0 D 1.0 D 1.0 D 0.000 D 1 D 4.01 H -3.92 D -6.58 D 0.97 6.665 32 0.995 0.992 D 1.090 D 0.958 D 0.615 0 5.73 0.917 1.048 0.999 1.000 19.893 Deleterious
1286 13 51958552 T G Pathogenic/Likely pathogenic ATP7B . . . . . . . . . . 13 51958552 51958552 T G intronic ATP7B . . . 13q14.3 . rs193922102 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . probably Tolerated (Intron)
1287 13 51961849 T G Pathogenic ATP7B . . . . . . . . . . 13 51961849 51961849 T G exonic ATP7B . nonsynonymous SNV ATP7B:NM_000053:exon6:c.T1934C:p.M645T,ATP7B:NM_001243182:exon7:c.T1601C:p.M534T 13q14.3 . . 0.45 T 0.104 B 0.018 B 0.072 N 1 D 0.205 N -2.57 D -0.5 N 0.068 1.529 13.47 0.851 0.835 D -0.775 T 0.357 T 0.638 0 1.66 0.090 0.237 0.998 0.999 4.059 Tolerated
1288 13 51961906 G C Pathogenic/Likely pathogenic ATP7B . . . . . . . . . . 13 51961906 51961906 G C exonic ATP7B . synonymous SNV ATP7B:NM_000053:exon6:c.G1877G:p.G626G,ATP7B:NM_001243182:exon7:c.G1544G:p.G515G 13q14.3 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
1289 13 51974906 C A Pathogenic/Likely pathogenic ATP7B . . . . . . . . . . 13 51974906 51974906 C A exonic ATP7B . nonsynonymous SNV ATP7B:NM_000053:exon2:c.C314T:p.S105L,ATP7B:NM_001005918:exon2:c.C314T:p.S105L,ATP7B:NM_001243182:exon2:c.C314T:p.S105L 13q14.3 . rs753236073 0.657 T 0.851 P 0.329 B 0.014 N 1 N 2.37 M -2.12 D -2.15 N 0.176 1.337 12.46 0.986 0.458 N -0.053 T 0.592 D 0.638 0 4.37 0.069 1.048 0.007 0.055 12.356 Deleterious
1290 13 51975098 A G Pathogenic/Likely pathogenic ATP7B . . . . . . . . . . 13 51975098 51975098 A G exonic ATP7B . nonsynonymous SNV ATP7B:NM_000053:exon2:c.A122C:p.N41T,ATP7B:NM_001005918:exon2:c.A122C:p.N41T,ATP7B:NM_001243182:exon2:c.A122C:p.N41T 13q14.3 . . 0.373 T 1.0 D 0.999 D 0.000 D 1.000 N 0.975 L -4.01 D -2.24 N 0.437 5.325 25.8 0.992 0.958 D 1.070 D 0.910 D 0.638 0 5.75 0.987 1.059 0.891 0.993 16.054 Deleterious
1291 13 76996086 G A Pathogenic/Likely pathogenic CLN5|FBXL3 . . . . . . . . . . 13 76996086 76996086 G A exonic CLN5 . stopgain CLN5:NM_006493:exon3:c.G671A:p.W224X 13q22.3 7.7e-05 rs386833980 . . . . . . 0.000 D 1 D . . . . . . . 12.454 39 0.997 0.993 D . . . . 0.732 0 5.47 0.917 1.048 0.999 0.998 19.332 Deleterious (FATHMM)
1292 13 100273218 C T Pathogenic PCCA . . . . . . . . . . 13 100273218 100273218 C T exonic PCCA . stopgain PCCA:NM_001127692:exon11:c.C859T:p.R287X,PCCA:NM_000282:exon12:c.C937T:p.R313X,PCCA:NM_001178004:exon12:c.C937T:p.R313X 13q32.3 . rs138149179 . . . . . . 0.000 D 1 A . . . . . . . 13.805 43 0.998 0.935 D . . . . 0.732 0 4.67 -0.058 0.935 0.725 0.840 14.180 Deleterious (FATHMM)
1293 14 23415153 G A Pathogenic/Likely pathogenic MYH7 . . . . . . . . . . 14 23415153 23415153 G A exonic MYH7 . stopgain MYH7:NM_000257:exon37:c.G5401T:p.E1801X 14q11.2 . . . . . . . . . . 1 A . . . . . . . 14.971 48 0.997 0.984 D . . . . 0.516 0 5.12 -0.006 0.066 0.941 0.680 18.752 Deleterious (FATHMM)
1294 14 23417174 C T Pathogenic/Likely pathogenic MYH7|MHRT . . . . . . . . . . 14 23417174 23417174 C T exonic MYH7 . synonymous SNV MYH7:NM_000257:exon32:c.C4498A:p.R1500R 14q11.2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
1295 14 23418244 G A Pathogenic/Likely pathogenic MYH7 . . . . . . . . . . 14 23418244 23418244 G A exonic MYH7 . nonsynonymous SNV MYH7:NM_000257:exon30:c.G4135T:p.A1379S 14q11.2 . . 0.002 D 0.98 D 0.892 P . . 1 D 3.685 H -1.2 T -2.07 N 0.728 7.045 33 0.998 0.990 D 0.701 D 0.714 D 0.497 0 4.83 0.871 0.848 0.987 0.918 18.107 Deleterious
1296 14 23419993 G A Pathogenic/Likely pathogenic MYH7 . . . . . . . . . . 14 23419993 23419993 G A exonic MYH7 . nonsynonymous SNV MYH7:NM_000257:exon27:c.G3578T:p.R1193L 14q11.2 . . 0.0 D 1.0 D 1.0 D . . 1 D 4.075 H -1.83 D -5.01 D 0.891 7.445 34 0.999 0.958 D 0.989 D 0.859 D 0.516 0 5.1 0.871 0.848 1.000 0.997 18.716 Deleterious
1297 14 23420225 G A Pathogenic/Likely pathogenic MYH7 . . . . . . . . . . 14 23420225 23420225 G A exonic MYH7 . stopgain MYH7:NM_000257:exon27:c.G3346T:p.E1116X 14q11.2 . . . . . . . . . . 1 A . . . . . . . 14.434 46 0.998 0.993 D . . . . 0.497 0 5.13 0.871 0.844 0.998 0.841 18.771 Deleterious (FATHMM)
1298 14 23422267 G A Pathogenic MYH7 . . . . . . . . . . 14 23422267 23422267 G A exonic MYH7 . nonsynonymous SNV MYH7:NM_000257:exon25:c.G3158T:p.R1053L 14q11.2 . . 0.001 D 1.0 D 0.998 D . . 1 D 3.675 H -3.66 D -5.4 D 0.935 7.900 35 0.999 0.980 D 1.087 D 0.939 D 0.497 0 4.64 0.871 0.917 1.000 0.994 18.045 Deleterious
1299 14 23424041 G A Pathogenic/Likely pathogenic MYH7 . . . . . . . . . . 14 23424041 23424041 G A exonic MYH7 . stopgain MYH7:NM_000257:exon23:c.G2788T:p.E930X 14q11.2 . . . . . . . . . . 1 A . . . . . . . 13.889 43 0.998 0.984 D . . . . 0.554 0 5.55 0.871 0.917 1.000 0.999 19.698 Deleterious (FATHMM)
1300 14 23424059 G A Pathogenic/Likely pathogenic MYH7 . . . . . . . . . . 14 23424059 23424059 G A exonic MYH7 . stopgain MYH7:NM_000257:exon23:c.G2770T:p.E924X 14q11.2 . . . . . . . . . . 1 A . . . . . . . 14.444 46 0.998 0.990 D . . . . 0.487 0 5.55 0.871 0.917 0.918 0.988 19.698 Deleterious (FATHMM)
1301 14 23424107 C G Pathogenic/Likely pathogenic MYH7 . . . . . . . . . . 14 23424107 23424107 C G exonic MYH7 . synonymous SNV MYH7:NM_000257:exon23:c.C2722C:p.L908L 14q11.2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
1302 14 23424112 A G Pathogenic MYH7 . . . . . . . . . . 14 23424112 23424112 A G exonic MYH7 . nonsynonymous SNV MYH7:NM_000257:exon23:c.A2717C:p.D906A 14q11.2 . . 0.003 D 0.265 B 0.297 B . . 1.000 D 0.98 L -2.38 D -4.21 D 0.551 4.493 24.3 0.993 0.988 D 0.074 D 0.600 D 0.554 0 5.55 0.991 1.040 1.000 0.997 15.861 Deleterious
1303 14 23424119 C T Pathogenic MYH7 . . . . . . . . . . 14 23424119 23424119 C T exonic MYH7 . nonsynonymous SNV MYH7:NM_000257:exon23:c.C2710A:p.R904S 14q11.2 . . 0.0 D 0.939 P 0.791 P . . 1.000 D 2.975 M -3.22 D -4.61 D 0.936 6.523 31 0.998 0.438 N 0.927 D 0.877 D 0.554 0 5.55 0.917 1.027 1.000 1.000 13.880 Deleterious
1304 14 23424839 G A Pathogenic/Likely pathogenic MYH7 . . . . . . . . . . 14 23424839 23424839 G A exonic MYH7 . nonsynonymous SNV MYH7:NM_000257:exon22:c.G2609T:p.R870L 14q11.2 . . 0.0 D 0.723 P 0.631 P . . 1.000 D 2.31 M -1.48 T -5.03 D 0.669 7.331 34 0.999 0.930 D 0.299 D 0.597 D 0.516 0 4.73 0.871 0.932 1.000 1.000 18.243 Deleterious
1305 14 23424935 C T Pathogenic MYH7 . . . . . . . . . . 14 23424935 23424935 C T exonic MYH7 . nonsynonymous SNV MYH7:NM_000257:exon22:c.C2513A:p.P838Q 14q11.2 . rs397516153 0.0 D 1.0 D 1.0 D . . 1 D 4.365 H -3.17 D -6.75 D 0.866 6.652 32 0.994 0.987 D 1.101 D 0.942 D 0.516 0 4.6 0.917 1.045 0.997 0.956 17.959 Deleterious
1306 14 23425316 G A Pathogenic/Likely pathogenic MYH7 . . . . . . . . . . 14 23425316 23425316 G A exonic MYH7 . nonsynonymous SNV MYH7:NM_000257:exon21:c.G2389T:p.A797S 14q11.2 . . 0.109 T 0.0 B 0.003 B . . 1 N 0.08 N -2.99 D -0.08 N 0.228 1.951 15.91 0.961 0.012 N -0.597 T 0.489 T 0.554 0 0.747 0.109 0.224 0.948 0.979 9.84 Tolerated
1307 14 23425403 G A Pathogenic MYH7 . . . . . . . . . . 14 23425403 23425403 G A exonic MYH7 . nonsynonymous SNV MYH7:NM_000257:exon21:c.G2302T:p.G768W 14q11.2 . . 0.0 D 1.0 D 0.999 D . . 1 D 3.95 H -3.87 D -6.76 D 0.924 8.219 35 0.995 0.994 D 1.099 D 0.953 D 0.487 0 4.6 0.871 0.932 0.996 0.873 17.959 Deleterious
1308 14 23425760 G A Pathogenic/Likely pathogenic MYH7 . . . . . . . . . . 14 23425760 23425760 G A exonic MYH7 . nonsynonymous SNV MYH7:NM_000257:exon20:c.G2221T:p.G741W 14q11.2 . rs121913632 0.0 D 0.999 D 0.992 D . . 1 D 3.18 M -3.67 D -3.85 D 0.836 7.553 34 0.997 0.967 D 1.075 D 0.928 D 0.554 0 4.79 0.871 0.888 0.994 0.997 18.013 Deleterious
1309 14 23425760 G C Pathogenic/Likely pathogenic MYH7 . . . . . . . . . . 14 23425760 23425760 G C exonic MYH7 . synonymous SNV MYH7:NM_000257:exon20:c.G2221G:p.G741G 14q11.2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
1310 14 23425774 T C Pathogenic/Likely pathogenic MYH7 . . . . . . . . . . 14 23425774 23425774 T C exonic MYH7 . nonsynonymous SNV MYH7:NM_000257:exon20:c.T2207G:p.I736S 14q11.2 . . 0.0 D 1.0 D 0.999 D . . 1 D 1.385 L -2.16 D -4.51 D 0.879 5.337 25.8 0.996 0.988 D 0.495 D 0.703 D 0.487 0 4.88 1.062 1.194 1.000 1.000 14.652 Deleterious
1311 14 23425790 C T Pathogenic/Likely pathogenic MYH7 . . . . . . . . . . 14 23425790 23425790 C T exonic MYH7 . nonsynonymous SNV MYH7:NM_000257:exon20:c.C2191A:p.P731T 14q11.2 . . 0.0 D 1.0 D 1.0 D . . 1 D 3.755 H -2.22 D -6.86 D 0.62 5.677 26.7 0.998 0.997 D 0.986 D 0.864 D 0.487 0 4.88 0.917 1.045 1.000 0.999 18.221 Deleterious
1312 14 23425814 C G Pathogenic/Likely pathogenic MYH7 . . . . . . . . . . 14 23425814 23425814 C G exonic MYH7 . synonymous SNV MYH7:NM_000257:exon20:c.C2167C:p.R723R 14q11.2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
1313 14 23425814 C T Pathogenic/Likely pathogenic MYH7 . . . . . . . . . . 14 23425814 23425814 C T exonic MYH7 . nonsynonymous SNV MYH7:NM_000257:exon20:c.C2167A:p.R723S 14q11.2 . . 0.003 D 0.48 P 0.627 P . . 1.000 D 1.87 L -2.21 D -3.71 D 0.889 5.018 25.2 0.998 0.806 D 0.188 D 0.670 D 0.490 1 3.94 0.917 1.045 0.953 0.993 13.979 Deleterious
1314 14 23425970 G A Pathogenic/Likely pathogenic MYH7 . . . . . . . . . . 14 23425970 23425970 G A exonic MYH7 . nonsynonymous SNV MYH7:NM_000257:exon19:c.G2156T:p.R719L 14q11.2 . . 0.0 D 0.002 B 0.015 B . . 0.991 D -0.4 N -3.45 D -4.46 D 0.581 6.289 29.1 0.996 0.707 D -0.003 T 0.599 D 0.487 0 5.03 0.871 0.932 0.997 0.999 13.903 Deleterious
1315 14 23425971 C T Pathogenic MYH7 . . . . . . . . . . 14 23425971 23425971 C T exonic MYH7 . synonymous SNV MYH7:NM_000257:exon19:c.C2155A:p.R719R 14q11.2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
1316 14 23426833 G A Pathogenic/Likely pathogenic MYH7 . . . . . . . . . . 14 23426833 23426833 G A exonic MYH7 . nonsynonymous SNV MYH7:NM_000257:exon18:c.G1988T:p.R663L 14q11.2 . . 0.0 D 0.255 B 0.476 P . . 1.000 D 2.64 M -2.33 D -5.35 D 0.802 7.499 34 0.998 0.983 D 0.570 D 0.737 D 0.487 0 3.98 0.871 0.848 0.997 1.000 15.196 Deleterious
1317 14 23426834 C T Pathogenic/Likely pathogenic MYH7 . . . . . . . . . . 14 23426834 23426834 C T exonic MYH7 . nonsynonymous SNV MYH7:NM_000257:exon18:c.C1987A:p.R663S 14q11.2 . . 0.0 D 0.292 B 0.67 P . . 1.000 D 1.82 L -2.22 D -4.31 D 0.858 6.848 33 0.998 0.876 D 0.543 D 0.742 D 0.487 0 4.89 0.917 0.949 0.996 1.000 18.236 Deleterious
1318 14 23427242 A G Pathogenic/Likely pathogenic MYH7 . . . . . . . . . . 14 23427242 23427242 A G exonic MYH7 . synonymous SNV MYH7:NM_000257:exon17:c.A1954C:p.R652R 14q11.2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
1319 14 23427657 G A Pathogenic/Likely pathogenic MYH7 . . . . . . . . . . 14 23427657 23427657 G A exonic MYH7 . nonsynonymous SNV MYH7:NM_000257:exon16:c.G1816T:p.V606L 14q11.2 . . 0.02 D 0.007 B 0.058 B . . 1.000 D 2.05 M -2.21 D -2.64 D 0.73 5.266 25.7 0.988 0.971 D 0.056 D 0.599 D 0.487 0 5.13 0.868 0.931 0.771 0.957 14.149 Deleterious
1320 14 23427723 G C Pathogenic/Likely pathogenic MYH7 . . . . . . . . . . 14 23427723 23427723 G C exonic MYH7 . synonymous SNV MYH7:NM_000257:exon16:c.G1750G:p.G584G 14q11.2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
1321 14 23429004 G A Pathogenic/Likely pathogenic MYH7 . . . . . . . . . . 14 23429004 23429004 G A exonic MYH7 . nonsynonymous SNV MYH7:NM_000257:exon14:c.G1358T:p.R453L 14q11.2 . . 0.0 D 0.999 D 0.999 D . . 1 D 3.455 M -2.26 D -6.27 D 0.943 7.731 35 0.999 0.975 D 0.942 D 0.841 D 0.516 0 4.18 0.871 0.847 1.000 1.000 16.686 Deleterious
1322 14 23429005 C T Pathogenic/Likely pathogenic MYH7 . . . . . . . . . . 14 23429005 23429005 C T exonic MYH7 . nonsynonymous SNV MYH7:NM_000257:exon14:c.C1357A:p.R453S 14q11.2 . rs121913625 0.0 D 1.0 D 1.0 D . . 1.000 D 1.705 L -2.2 D -5.37 D 0.943 6.545 31 0.998 0.612 D 0.484 D 0.710 D 0.516 0 4.18 0.917 0.948 1.000 1.000 11.531 Deleterious
1323 14 23429278 G A Pathogenic MYH7 . . . . . . . . . . 14 23429278 23429278 G A exonic MYH7 . nonsynonymous SNV MYH7:NM_000257:exon13:c.G1208T:p.R403L 14q11.2 . rs121913624 0.0 D 0.999 D 0.999 D . . 1.000 D 3.565 H -2.33 D -6.13 D 0.996 6.981 33 0.999 0.992 D 0.959 D 0.845 D 0.487 0 4.04 0.871 0.847 0.940 0.983 16.373 Deleterious
1324 14 23429279 C T Pathogenic/Likely pathogenic MYH7 . . . . . . . . . . 14 23429279 23429279 C T exonic MYH7 . synonymous SNV MYH7:NM_000257:exon13:c.C1207A:p.R403R 14q11.2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
1325 14 23429807 G A Pathogenic/Likely pathogenic MYH7 . . . . . . . . . . 14 23429807 23429807 G A exonic MYH7 . nonsynonymous SNV MYH7:NM_000257:exon12:c.G1106T:p.R369L 14q11.2 . . 0.0 D 0.028 B 0.196 B . . 1.000 D 3.73 H -2.28 D -6.08 D 0.833 7.533 34 0.998 0.975 D 0.686 D 0.773 D 0.487 0 3.94 0.787 0.766 0.980 0.998 16.150 Deleterious
1326 14 23429901 G A Pathogenic/Likely pathogenic MYH7 . . . . . . . . . . 14 23429901 23429901 G A exonic MYH7 . nonsynonymous SNV MYH7:NM_000257:exon12:c.G1012T:p.V338L 14q11.2 . . 0.007 D 0.001 B 0.019 B . . 1.000 D 2.18 M -3.69 D -1.43 N 0.566 3.315 22.9 0.989 0.632 D 0.596 D 0.802 D 0.487 0 4.04 0.868 0.850 0.997 0.833 9.959 Deleterious
1327 14 23430954 G C Pathogenic MYH7 . . . . . . . . . . 14 23430954 23430954 G C exonic MYH7 . synonymous SNV MYH7:NM_000257:exon10:c.G842G:p.R281R 14q11.2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
1328 14 23431426 T C Pathogenic/Likely pathogenic MYH7 . . . . . . . . . . 14 23431426 23431426 T C exonic MYH7 . nonsynonymous SNV MYH7:NM_000257:exon9:c.T788G:p.I263R 14q11.2 . . 0.0 D 0.516 P 0.793 P . . 1 D 4.725 H -2.88 D -5.71 D 0.958 4.985 25.1 0.983 0.996 D 1.048 D 0.926 D 0.497 0 3.47 0.960 1.032 0.998 1.000 12.414 Deleterious
1329 14 23431447 G A Pathogenic MYH7 . . . . . . . . . . 14 23431447 23431447 G A exonic MYH7 . nonsynonymous SNV MYH7:NM_000257:exon9:c.G767T:p.G256V 14q11.2 . . 0.0 D 0.996 D 0.995 D . . 1 D 4.355 H -4.04 D -7.1 D 0.946 5.282 25.7 0.997 0.989 D 1.083 D 0.963 D 0.497 0 3.47 0.791 0.810 0.998 0.996 15.488 Deleterious
1330 14 23431468 G A Pathogenic/Likely pathogenic MYH7 . . . . . . . . . . 14 23431468 23431468 G A exonic MYH7 . nonsynonymous SNV MYH7:NM_000257:exon9:c.G746T:p.R249L 14q11.2 . . 0.0 D 0.896 P 0.877 P . . 1 D 3.95 H -3.71 D -5.7 D 0.892 6.124 28.3 0.998 0.989 D 1.105 D 0.943 D 0.497 0 3.47 0.791 0.810 0.996 0.991 15.488 Deleterious
1331 14 23431584 G A Pathogenic/Likely pathogenic MYH7 . . . . . . . . . . 14 23431584 23431584 G A splicing MYH7 NM_000257:exon8:c.732+1C>T . . 14q11.2 . . . . . . . . . . 1 D . . . . . . . 5.200 25.5 0.994 0.964 D . . . . 0.054 0 3.47 0.791 0.810 0.980 0.884 15.488 Deleterious (FATHMM)
1332 14 23431804 C T Pathogenic/Likely pathogenic MYH7 . . . . . . . . . . 14 23431804 23431804 C T exonic MYH7 . nonsynonymous SNV MYH7:NM_000257:exon7:c.C596A:p.A199E 14q11.2 . . 0.0 D 0.998 D 0.993 D . . 1 D 2.79 M -2.25 D -3.49 D 0.893 5.932 27.6 0.994 0.967 D 0.782 D 0.790 D 0.549 0 3.12 0.830 0.804 0.995 0.987 14.718 Deleterious
1333 14 23432703 G T Pathogenic/Likely pathogenic MYH7 . . . . . . . . . . 14 23432703 23432703 G T exonic MYH7 . synonymous SNV MYH7:NM_000257:exon5:c.G438A:p.K146K 14q11.2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
1334 14 23432713 G A Pathogenic/Likely pathogenic MYH7 . . . . . . . . . . 14 23432713 23432713 G A exonic MYH7 . nonsynonymous SNV MYH7:NM_000257:exon5:c.G428T:p.R143L 14q11.2 . . 0.001 D 0.717 P 0.589 P . . 1.000 D 2.625 M -2.32 D -4.65 D 0.927 6.145 28.4 0.998 0.983 D 0.656 D 0.721 D 0.497 0 3.61 0.791 0.763 0.997 0.862 15.807 Deleterious
1335 14 28767840 C A Pathogenic FOXG1 . . . . . . . . . . 14 28767840 28767840 C A exonic FOXG1 . nonsynonymous SNV FOXG1:NM_005249:exon1:c.C561A:p.N187K 14q12 . rs796052462 0.007 D 1.0 D 1.0 D 0.000 U 1.000 D 1.24 L -3.68 D -5.17 D 0.435 5.397 26.0 0.997 0.942 D 0.585 D 0.816 D 0.598 0 1.81 -0.024 0.721 0.994 0.997 8.157 Deleterious
1336 14 31599308 T C Pathogenic/Likely pathogenic NUBPL . . . . . . . . . . 14 31599308 31599308 T C exonic NUBPL . nonsynonymous SNV NUBPL:NM_001201573:exon2:c.T23C:p.L8P,NUBPL:NM_025152:exon4:c.T311C:p.L104P 14q12 8.5e-05 rs201430951 0.0 D 1.0 D 1.0 D 0.000 D 1 D 3.505 H 0.72 T -6.52 D 0.986 6.240 28.9 0.999 0.925 D 0.008 D 0.401 T 0.706 0 5.4 0.991 1.011 0.995 0.982 13.655 Tolerated
1337 14 31850092 T C Pathogenic NUBPL . . . . . . . . . . 14 31850092 31850092 T C intronic NUBPL . . . 14q12 0.0035 rs118161496 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . probably Tolerated (Intron)
1338 14 50613343 C T Pathogenic ATL1 . . . . . . . . . . 14 50613343 50613343 C T exonic ATL1 . nonsynonymous SNV ATL1:NM_015915:exon7:c.C715T:p.R239C,ATL1:NM_181598:exon7:c.C715T:p.R239C,ATL1:NM_001127713:exon8:c.C715T:p.R239C 14q22.1 . rs119476046 0.037 D 0.764 P 0.342 B 0.000 N 1 A 2.405 M 0.08 T -7.39 D 0.973 5.892 27.4 0.998 0.916 D -0.474 T 0.203 T 0.615 0 4.38 -0.058 0.935 0.975 1.000 7.821 Tolerated
1339 14 50614406 G A Pathogenic/Likely pathogenic ATL1 . . . . . . . . . . 14 50614406 50614406 G A exonic ATL1 . nonsynonymous SNV ATL1:NM_015915:exon8:c.G757A:p.V253I,ATL1:NM_181598:exon8:c.G757A:p.V253I,ATL1:NM_001127713:exon9:c.G757A:p.V253I 14q22.1 . rs864622520 0.007 D 0.646 P 0.569 P 0.000 D 1 D 2.01 M 0.16 T -0.21 N 0.797 3.058 22.4 0.998 0.996 D -0.519 T 0.304 T 0.615 0 5.63 0.917 1.048 0.978 0.982 19.027 Tolerated
1340 14 50628394 C T Pathogenic ATL1 . . . . . . . . . . 14 50628394 50628394 C T exonic ATL1 . nonsynonymous SNV ATL1:NM_015915:exon12:c.C1483T:p.R495W,ATL1:NM_181598:exon12:c.C1483T:p.R495W,ATL1:NM_001127713:exon13:c.C1483T:p.R495W 14q22.1 . rs864622269 0.0 D 1.0 D 0.998 D 0.000 D 1 D 2.435 M -3.01 D -7.27 D 0.988 7.430 34 0.999 0.914 D 0.827 D 0.849 D 0.651 0 4.73 0.871 0.935 0.999 0.997 11.635 Deleterious
1341 14 74494329 G A Pathogenic/Likely pathogenic ISCA2 . . . . . . . . . . 14 74494329 74494329 G A exonic ISCA2 . nonsynonymous SNV ISCA2:NM_194279:exon3:c.G229A:p.G77S 14q24.3 . rs730882246 0.0 D 1.0 D 1.0 D 0.000 D 1 D 2.09 M . . -5.98 D 0.762 7.185 34 0.999 0.961 D -0.143 T 0.436 T 0.628 0 5.28 0.917 1.048 1.000 1.000 19.093 Tolerated
1342 14 75005867 G T Pathogenic/Likely pathogenic EIF2B2 . . . . . . . . . . 14 75005867 75005867 G T exonic EIF2B2 . nonsynonymous SNV EIF2B2:NM_014239:exon5:c.G599T:p.G200V 14q24.3 0.0004 rs113994012 0.0 D 1.0 D 0.999 D 0.000 D 1 D 3.385 M -4.37 D -8.88 D 0.993 6.924 33 0.998 0.997 D 1.091 D 0.964 D 0.722 0 5.53 0.917 1.048 0.990 0.989 19.656 Deleterious
1343 14 77278764 A G Pathogenic/Likely pathogenic POMT2 . . . . . . . . . . 14 77278764 77278764 A G exonic POMT2 . nonsynonymous SNV POMT2:NM_013382:exon19:c.A1997C:p.Y666S 14q24.3 . . 0.0 D 1.0 D 1.0 D 0.000 D 1 D 3.435 M -4.33 D -7.69 D 0.932 6.629 32 0.994 0.958 D 1.101 D 0.961 D 0.732 0 5.68 0.899 1.011 1.000 1.000 15.915 Deleterious
1344 14 77285548 C T Pathogenic POMT2 . . . . . . . . . . 14 77285548 77285548 C T exonic POMT2 . synonymous SNV POMT2:NM_013382:exon13:c.C1417A:p.R473R 14q24.3 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
1345 14 87941529 A C Pathogenic/Likely pathogenic GALC . . . . . . . . . . 14 87941529 87941529 A C exonic GALC . nonsynonymous SNV GALC:NM_001201401:exon14:c.A1631G:p.Y544C,GALC:NM_000153:exon15:c.A1700G:p.Y567C,GALC:NM_001201402:exon15:c.A1622G:p.Y541C 14q31.3 . . 0.042 D 0.999 D 0.985 D 0.000 D 1.000 D 2.36 M -3.61 D -4.06 D 0.686 3.152 22.6 0.998 0.927 D 0.908 D 0.891 D 0.706 0 4.57 0.991 1.011 0.993 0.998 12.180 Deleterious
1346 14 87968386 G A Pathogenic/Likely pathogenic GALC . . . . . . . . . . 14 87968386 87968386 G A exonic GALC . nonsynonymous SNV GALC:NM_001201401:exon7:c.G788T:p.G263V,GALC:NM_000153:exon8:c.G857T:p.G286V,GALC:NM_001201402:exon8:c.G779T:p.G260V 14q31.3 . . 0.107 T 1.0 D 0.992 D 0.000 D 1 D 2.635 M -3.79 D -5.68 D 0.968 6.758 32 0.997 0.975 D 1.036 D 0.923 D 0.693 0 4.68 0.871 0.892 0.962 0.970 16.727 Deleterious
1347 14 94378610 G A Pathogenic, other SERPINA1 . . . . . . . . . . 14 94378610 94378610 G A exonic SERPINA1 . stopgain SERPINA1:NM_000295:exon5:c.G1096T:p.E366X,SERPINA1:NM_001002235:exon5:c.G1096T:p.E366X,SERPINA1:NM_001127700:exon5:c.G1096T:p.E366X,SERPINA1:NM_001127702:exon6:c.G1096T:p.E366X,SERPINA1:NM_001127706:exon6:c.G1096T:p.E366X,SERPINA1:NM_001127707:exon6:c.G1096T:p.E366X,SERPINA1:NM_001002236:exon7:c.G1096T:p.E366X,SERPINA1:NM_001127701:exon7:c.G1096T:p.E366X,SERPINA1:NM_001127703:exon7:c.G1096T:p.E366X,SERPINA1:NM_001127704:exon7:c.G1096T:p.E366X,SERPINA1:NM_001127705:exon7:c.G1096T:p.E366X 14q32.13 . . . . . . . . 0.008 N 1 D . . . . . . . 9.983 36 0.991 0.931 D . . . . 0.516 0 2.95 0.871 0.935 0.913 0.694 8.489 Deleterious (FATHMM)
1348 14 94380925 A T Pathogenic, not provided, other SERPINA1 . . . . . . . . . . 14 94380925 94380925 A T exonic SERPINA1 . synonymous SNV SERPINA1:NM_000295:exon3:c.A863A:p.E288E,SERPINA1:NM_001002235:exon3:c.A863A:p.E288E,SERPINA1:NM_001127700:exon3:c.A863A:p.E288E,SERPINA1:NM_001127702:exon4:c.A863A:p.E288E,SERPINA1:NM_001127706:exon4:c.A863A:p.E288E,SERPINA1:NM_001127707:exon4:c.A863A:p.E288E,SERPINA1:NM_001002236:exon5:c.A863A:p.E288E,SERPINA1:NM_001127701:exon5:c.A863A:p.E288E,SERPINA1:NM_001127703:exon5:c.A863A:p.E288E,SERPINA1:NM_001127704:exon5:c.A863A:p.E288E,SERPINA1:NM_001127705:exon5:c.A863A:p.E288E 14q32.13 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
1349 14 95096166 C G Pathogenic DICER1 . . . . . . . . . . 14 95096166 95096166 C G exonic DICER1 . synonymous SNV DICER1:NM_001195573:exon22:c.C4754C:p.S1585S,DICER1:NM_001271282:exon23:c.C4754C:p.S1585S,DICER1:NM_001291628:exon23:c.C4754C:p.S1585S,DICER1:NM_177438:exon23:c.C4754C:p.S1585S,DICER1:NM_030621:exon25:c.C4754C:p.S1585S 14q32.13 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
1350 14 95112226 C T Pathogenic DICER1 . . . . . . . . . . 14 95112226 95112226 C T exonic DICER1 . synonymous SNV DICER1:NM_001195573:exon12:c.C2062A:p.R688R,DICER1:NM_001271282:exon13:c.C2062A:p.R688R,DICER1:NM_001291628:exon13:c.C2062A:p.R688R,DICER1:NM_177438:exon13:c.C2062A:p.R688R,DICER1:NM_030621:exon15:c.C2062A:p.R688R 14q32.13 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
1351 14 95113106 C T Pathogenic DICER1 . . . . . . . . . . 14 95113106 95113106 C T exonic DICER1 . synonymous SNV DICER1:NM_001195573:exon11:c.C2026A:p.R676R,DICER1:NM_001271282:exon12:c.C2026A:p.R676R,DICER1:NM_001291628:exon12:c.C2026A:p.R676R,DICER1:NM_177438:exon12:c.C2026A:p.R676R,DICER1:NM_030621:exon14:c.C2026A:p.R676R 14q32.13 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
1352 14 95130072 C T Pathogenic DICER1 . . . . . . . . . . 14 95130072 95130072 C T exonic DICER1 . synonymous SNV DICER1:NM_001195573:exon4:c.C559A:p.R187R,DICER1:NM_001271282:exon5:c.C559A:p.R187R,DICER1:NM_001291628:exon5:c.C559A:p.R187R,DICER1:NM_177438:exon5:c.C559A:p.R187R,DICER1:NM_030621:exon7:c.C559A:p.R187R 14q32.13 . rs763801533 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
1353 14 96876033 C T Pathogenic VRK1 . . . . . . . . . . 14 96876033 96876033 C T exonic VRK1 . stopgain VRK1:NM_003384:exon12:c.C1072T:p.R358X 14q32.2 7.7e-05 rs137853063 . . . . . . 0.001 D 1 A . . . . . . . 12.208 38 0.996 0.642 D . . . . 0.732 0 -1.18 0.871 0.038 0.995 0.979 15.587 Deleterious (FATHMM)
1354 14 101986017 C T Pathogenic/Likely pathogenic DYNC1H1 . . . . . . . . . . 14 101986017 101986017 C T exonic DYNC1H1 . nonsynonymous SNV DYNC1H1:NM_001376:exon8:c.C1792T:p.R598C 14q32.31 . rs587780564 0.0 D 1.0 D 0.994 D 0.000 D 1 D 3.425 M 0.18 T -7.03 D 0.914 7.198 34 0.999 0.960 D 0.145 D 0.494 T 0.707 0 5.85 0.871 0.932 0.999 0.997 15.729 Tolerated
1355 14 102002694 G A Pathogenic DYNC1H1 . . . . . . . . . . 14 102002694 102002694 G A exonic DYNC1H1 . nonsynonymous SNV DYNC1H1:NM_001376:exon22:c.G4700A:p.R1567Q 14q32.31 . rs797044901 0.001 D 1.0 D 0.991 D 0.000 D 1 D 2.995 M 0.02 T -3.77 D 0.726 7.576 34 1.000 0.999 D 0.108 D 0.487 T 0.707 0 4.88 0.917 1.048 0.939 0.998 14.546 Tolerated
1356 15 23644619 C T Pathogenic MAGEL2 . . . . . . . . . . 15 23644619 23644619 C T exonic MAGEL2 . nonsynonymous SNV MAGEL2:NM_019066:exon1:c.C3124A:p.Q1042K 15q11.2 . . . . 0.0 B 0.004 B . . 0.999 N -1.21 N . . . . 0.056 0.873 9.904 0.768 0.178 N . . . . 0.646 0 3.45 -0.033 -0.004 0.507 0.521 7.738
1357 15 23645831 C T Pathogenic/Likely pathogenic MAGEL2 . . . . . . . . . . 15 23645831 23645831 C T exonic MAGEL2 . nonsynonymous SNV MAGEL2:NM_019066:exon1:c.C1912A:p.Q638K 15q11.2 . . . . 0.608 P 0.143 B . . 1.000 N 1.5 L . . . . 0.139 1.909 15.64 0.981 0.818 D . . . . 0.487 0 3.43 0.893 0.874 0.129 0.818 6.801 Deleterious (FATHMM)
1358 15 27983340 G A Pathogenic OCA2 . . . . . . . . . . 15 27983340 27983340 G A intronic OCA2 . . . 15q13.1 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . probably Tolerated (Intron)
1359 15 27985101 G A Pathogenic OCA2 . . . . . . . . . . 15 27985101 27985101 G A exonic OCA2 . nonsynonymous SNV OCA2:NM_001300984:exon12:c.G1255T:p.V419F,OCA2:NM_000275:exon13:c.G1327T:p.V443F 15q13.1 . . 0.001 D 1.0 D 1.0 D 0.000 D 1 D 3.465 M -1.34 T -4.94 D 0.975 7.700 35 0.996 0.978 D 0.746 D 0.762 D 0.500 0 5.2 0.871 0.935 0.995 0.867 18.094 Deleterious
1360 15 34793398 G A Pathogenic/Likely pathogenic ACTC1|LOC101928174 . . . . . . . . . . 15 34793398 34793398 G A exonic ACTC1 . stopgain ACTC1:NM_005159:exon3:c.G301T:p.E101X 15q14 . . . . . . . . 0.000 U 1 A . . . . . . . 13.323 41 0.998 0.962 D . . . . 0.635 0 5.63 0.871 0.935 0.997 0.982 20.044 Deleterious (FATHMM)
1361 15 40410699 G A Pathogenic/Likely pathogenic IVD . . . . . . . . . . 15 40410699 40410699 G A exonic IVD . nonsynonymous SNV IVD:NM_001159508:exon3:c.G277A:p.G93R,IVD:NM_002225:exon4:c.G367A:p.G123R 15q15.1 7.7e-05 rs142761835 0.001 D 1.0 D 0.999 D 0.008 N 1.000 D 2.95 M -6.52 D -5.04 D 0.89 6.886 33 0.999 0.994 D 1.001 D 0.990 D 0.707 0 5.07 0.917 1.048 0.881 0.363 18.638 Deleterious
1362 15 40415454 C T Pathogenic IVD . . . . . . . . . . 15 40415454 40415454 C T exonic IVD . nonsynonymous SNV IVD:NM_001159508:exon8:c.C851T:p.A284V,IVD:NM_002225:exon9:c.C941T:p.A314V 15q15.1 0.0007 rs28940889 0.009 D 0.973 D 0.846 P 0.000 D 1 A 2.16 M -3.92 D -1.4 N 0.924 7.050 33 0.999 0.962 D -0.341 T 0.395 T 0.707 0 5.38 0.871 0.892 1.000 1.000 19.134 Tolerated
1363 15 42359950 C T Pathogenic/Likely pathogenic CAPN3 . . . . . . . . . . 15 42359950 42359950 C T exonic CAPN3 . nonsynonymous SNV CAPN3:NM_000070:exon1:c.C145T:p.R49C,CAPN3:NM_024344:exon1:c.C145T:p.R49C,CAPN3:NM_173087:exon1:c.C145T:p.R49C 15q15.1 . rs794726871 0.001 D 1.0 D 0.999 D 0.002 U 1 D 0.805 L -4.4 D -2.0 N 0.954 7.454 34 0.999 0.928 D 0.955 D 0.895 D 0.554 0 5.01 0.871 0.935 0.999 1.000 13.837 Deleterious
1364 15 42389944 G A Pathogenic/Likely pathogenic CAPN3 . . . . . . . . . . 15 42389944 42389944 G A intronic CAPN3 . . . 15q15.1 . rs761211705 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . probably Tolerated (Intron)
1365 15 42399483 A G Pathogenic CAPN3 . . . . . . . . . . 15 42399483 42399483 A G intronic CAPN3 . . . 15q15.1 7.7e-05 rs374665929 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . probably Tolerated (Intron)
1366 15 42399617 G A Pathogenic CAPN3 . . . . . . . . . . 15 42399617 42399617 G A exonic CAPN3 . nonsynonymous SNV CAPN3:NM_173087:exon9:c.G1175A:p.R392Q,CAPN3:NM_000070:exon10:c.G1319A:p.R440Q,CAPN3:NM_024344:exon10:c.G1319A:p.R440Q 15q15.1 7.7e-05 rs376107921 0.009 D 1.0 D 0.979 D 0.000 U 1.000 D 2.54 M -2.3 D -3.32 D 0.888 7.346 34 1.000 0.985 D 0.645 D 0.772 D 0.638 0 5.37 0.917 1.048 0.992 0.997 12.599 Deleterious
1367 15 42399640 C T Pathogenic CAPN3 . . . . . . . . . . 15 42399640 42399640 C T exonic CAPN3 . nonsynonymous SNV CAPN3:NM_173087:exon9:c.C1198T:p.R400C,CAPN3:NM_000070:exon10:c.C1342T:p.R448C,CAPN3:NM_024344:exon10:c.C1342T:p.R448C 15q15.1 . rs776043976 0.0 D 1.0 D 1.0 D 0.000 U 1 D 3.52 H -2.5 D -7.46 D 0.973 8.050 35 0.999 0.962 D 0.931 D 0.865 D 0.638 0 5.37 0.871 0.935 0.999 0.998 14.184 Deleterious
1368 15 42399641 G A Pathogenic CAPN3 . . . . . . . . . . 15 42399641 42399641 G A exonic CAPN3 . nonsynonymous SNV CAPN3:NM_173087:exon9:c.G1199A:p.R400H,CAPN3:NM_000070:exon10:c.G1343A:p.R448H,CAPN3:NM_024344:exon10:c.G1343A:p.R448H 15q15.1 . rs863224956 0.001 D 1.0 D 0.999 D 0.000 U 1 D 2.83 M -2.44 D -4.59 D 0.958 7.719 35 1.000 0.995 D 0.868 D 0.851 D 0.638 0 5.37 0.917 1.048 0.998 0.998 19.314 Deleterious
1369 15 42401751 C T Pathogenic CAPN3 . . . . . . . . . . 15 42401751 42401751 C T exonic CAPN3 . nonsynonymous SNV CAPN3:NM_173087:exon10:c.C1321T:p.R441W,CAPN3:NM_000070:exon11:c.C1465T:p.R489W,CAPN3:NM_024344:exon11:c.C1465T:p.R489W 15q15.1 . rs863224957 0.119 T 1.0 D 1.0 D 0.000 U 1 D 2.425 M -2.43 D -7.45 D 0.969 5.394 26.0 0.998 0.768 D 0.546 D 0.779 D 0.646 1 -0.179 -0.058 -0.008 0.981 0.995 13.878 Deleterious
1370 15 42401754 C T Pathogenic CAPN3 . . . . . . . . . . 15 42401754 42401754 C T exonic CAPN3 . nonsynonymous SNV CAPN3:NM_173087:exon10:c.C1324T:p.R442W,CAPN3:NM_000070:exon11:c.C1468T:p.R490W,CAPN3:NM_024344:exon11:c.C1468T:p.R490W 15q15.1 7.7e-05 rs141656719 0.0 D 1.0 D 1.0 D 0.000 U 1 D 3.715 H -2.74 D -7.7 D 0.973 6.279 29.0 0.998 0.471 N 0.903 D 0.876 D 0.495 0 -3.67 -0.058 -0.008 0.985 0.990 18.419 Deleterious
1371 15 42401755 G A Pathogenic CAPN3 . . . . . . . . . . 15 42401755 42401755 G A exonic CAPN3 . nonsynonymous SNV CAPN3:NM_173087:exon10:c.G1325A:p.R442Q,CAPN3:NM_000070:exon11:c.G1469A:p.R490Q,CAPN3:NM_024344:exon11:c.G1469A:p.R490Q 15q15.1 . rs121434548 0.001 D 1.0 D 1.0 D 0.000 U 1 A 3.715 H -2.67 D -3.84 D 0.97 7.207 34 1.000 0.976 D 1.044 D 0.897 D 0.495 0 4.69 0.917 0.953 0.986 0.991 17.811 Deleterious
1372 15 42402971 C T Pathogenic CAPN3 . . . . . . . . . . 15 42402971 42402971 C T exonic CAPN3 . nonsynonymous SNV CAPN3:NM_173088:exon2:c.C178T:p.R60W,CAPN3:NM_173087:exon12:c.C1570T:p.R524W,CAPN3:NM_000070:exon13:c.C1714T:p.R572W,CAPN3:NM_024344:exon13:c.C1714T:p.R572W 15q15.1 . rs863224959 0.0 D 1.0 D 1.0 D 0.000 U 1 D 3.875 H -2.66 D -7.44 D 0.997 7.479 34 0.999 0.795 D 0.996 D 0.892 D 0.615 0 4.03 0.871 0.935 0.999 0.998 12.687 Deleterious
1373 15 42402972 G A Pathogenic CAPN3 . . . . . . . . . . 15 42402972 42402972 G A exonic CAPN3 . nonsynonymous SNV CAPN3:NM_173088:exon2:c.G179A:p.R60Q,CAPN3:NM_173087:exon12:c.G1571A:p.R524Q,CAPN3:NM_000070:exon13:c.G1715A:p.R572Q,CAPN3:NM_024344:exon13:c.G1715A:p.R572Q 15q15.1 . rs121434544 0.001 D 1.0 D 1.0 D 0.000 U 1 A 3.325 M -2.61 D -3.72 D 0.988 7.573 34 1.000 0.965 D 0.958 D 0.867 D 0.615 0 4.97 0.917 1.048 0.999 0.997 18.414 Deleterious
1374 15 42409381 G T Pathogenic CAPN3 . . . . . . . . . . 15 42409381 42409381 G T splicing CAPN3 NM_000070:exon17:c.1992+1G>T,NM_173087:exon14:c.1716+1G>T,NM_024344:exon16:c.1974+1G>T,NM_173088:exon6:c.456+1G>T . . 15q15.1 . rs863224961 . . . . . . . . 1 D . . . . . . . 5.106 25.3 0.994 0.988 D . . . . 0.162 0 5.05 0.917 0.953 0.925 0.774 18.609 Deleterious (FATHMM)
1375 15 42410646 G A Pathogenic CAPN3 . . . . . . . . . . 15 42410646 42410646 G A exonic CAPN3 . nonsynonymous SNV CAPN3:NM_173089:exon6:c.G248A:p.R83Q,CAPN3:NM_173090:exon7:c.G248A:p.R83Q,CAPN3:NM_173088:exon10:c.G707A:p.R236Q,CAPN3:NM_173087:exon18:c.G1967A:p.R656Q,CAPN3:NM_024344:exon20:c.G2225A:p.R742Q,CAPN3:NM_000070:exon21:c.G2243A:p.R748Q 15q15.1 . rs587780290 0.007 D 1.0 D 1.0 D 0.000 U 1 D 1.985 M -0.1 T -2.95 D 0.966 7.724 35 0.999 0.976 D -0.028 T 0.457 T 0.660 0 4.54 0.917 0.953 1.000 1.000 17.503 Tolerated
1376 15 42410958 G C Pathogenic CAPN3 . . . . . . . . . . 15 42410958 42410958 G C exonic CAPN3 . nonsynonymous SNV CAPN3:NM_173089:exon7:c.G343C:p.D115H,CAPN3:NM_173090:exon8:c.G343C:p.D115H,CAPN3:NM_173088:exon11:c.G802C:p.D268H,CAPN3:NM_173087:exon19:c.G2062C:p.D688H,CAPN3:NM_024344:exon21:c.G2320C:p.D774H,CAPN3:NM_000070:exon22:c.G2338C:p.D780H 15q15.1 . rs778768583 0.0 D 1.0 D 1.0 D 0.000 U 1 D 3.215 M -3.79 D -5.97 D 0.965 6.590 31 0.996 0.968 D 1.077 D 0.943 D 0.660 0 5.4 0.917 1.048 0.998 0.998 19.360 Deleterious
1377 15 43260151 G T Pathogenic TGM5 . . . . . . . . . . 15 43260151 43260151 G T exonic TGM5 . nonsynonymous SNV TGM5:NM_201631:exon3:c.G337A:p.G113S 15q15.2 . . 0.0 D 1.0 D 1.0 D 0.000 D 1 D 2.39 M -3.21 D -5.59 D 0.837 7.028 33 0.999 0.991 D 0.967 D 0.888 D 0.487 0 5.33 0.871 0.935 0.781 0.998 16.888 Deleterious
1378 15 44615524 C A Pathogenic/Likely pathogenic SPG11 . . . . . . . . . . 15 44615524 44615524 C A exonic SPG11 . synonymous SNV SPG11:NM_001160227:exon16:c.C2877T:p.C959C,SPG11:NM_025137:exon16:c.C2877T:p.C959C 15q21.1 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
1379 15 44626429 C T Pathogenic/Likely pathogenic SPG11 . . . . . . . . . . 15 44626429 44626429 C T exonic SPG11 . nonsynonymous SNV SPG11:NM_001160227:exon11:c.C2146A:p.Q716K,SPG11:NM_025137:exon11:c.C2146A:p.Q716K 15q21.1 7.7e-05 rs312262737 0.331 T 0.996 D 0.895 P 0.001 D 0.999 D 2.14 M 1.38 T -1.17 N 0.666 1.182 11.65 0.973 0.918 D 0.105 D 0.588 D 0.707 0 5.79 0.917 1.048 0.988 0.991 17.809 Deleterious
1380 15 48411280 C T Pathogenic FBN1 . . . . . . . . . . 15 48411280 48411280 C T exonic FBN1 . synonymous SNV FBN1:NM_000138:exon66:c.C8326A:p.R2776R 15q21.1 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
1381 15 48412715 C T Pathogenic FBN1 . . . . . . . . . . 15 48412715 48412715 C T exonic FBN1 . synonymous SNV FBN1:NM_000138:exon65:c.C8080A:p.R2694R 15q21.1 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
1382 15 48415632 G A Pathogenic/Likely pathogenic FBN1 . . . . . . . . . . 15 48415632 48415632 G A exonic FBN1 . nonsynonymous SNV FBN1:NM_000138:exon64:c.G7955T:p.C2652F 15q21.1 . . 0.003 D 0.997 D 0.996 D 0.000 D 1 D 3.815 H -5.91 D -7.74 D 0.985 7.779 35 0.991 0.987 D 1.009 D 0.989 D 0.722 0 5.81 0.871 0.935 0.999 0.999 18.834 Deleterious
1383 15 48420700 G A Pathogenic/Likely pathogenic FBN1 . . . . . . . . . . 15 48420700 48420700 G A exonic FBN1 . nonsynonymous SNV FBN1:NM_000138:exon63:c.G7806T:p.W2602C 15q21.1 . . 0.013 D 1.0 D 0.998 D 0.000 D 1 D 0.55 N -2.22 D -8.03 D 0.912 7.831 35 0.994 0.996 D 0.335 D 0.670 D 0.707 0 5.96 0.871 0.935 1.000 1.000 20.017 Deleterious
1384 15 48420752 T C Pathogenic/Likely pathogenic FBN1 . . . . . . . . . . 15 48420752 48420752 T C exonic FBN1 . nonsynonymous SNV FBN1:NM_000138:exon63:c.T7754G:p.I2585S 15q21.1 . . 0.633 T 0.784 P 0.412 B 0.000 D 1.000 D 1.49 L -2.98 D -3.35 D 0.605 4.247 23.9 0.995 0.994 D 0.328 D 0.698 D 0.707 0 6.17 1.062 1.199 0.993 0.997 16.484 Deleterious
1385 15 48421651 G A Pathogenic FBN1 . . . . . . . . . . 15 48421651 48421651 G A exonic FBN1 . nonsynonymous SNV FBN1:NM_000138:exon62:c.G7606T:p.G2536W 15q21.1 . . 0.003 D 1.0 D 1.0 D 0.000 D 1 D 2.71 M -2.97 D -5.31 D 0.883 8.509 35 0.995 0.991 D 0.908 D 0.891 D 0.732 0 6.02 0.871 0.935 0.996 0.971 20.136 Deleterious
1386 15 48425865 G A Pathogenic/Likely pathogenic FBN1 . . . . . . . . . . 15 48425865 48425865 G A splicing FBN1 NM_000138:exon59:c.7205-1C>T . . 15q21.1 . . . . . . . . . . 1 D . . . . . . . 5.463 26.1 0.995 0.990 D . . . . 0.322 0 6.17 0.871 0.935 0.897 0.865 20.474 Deleterious (FATHMM)
1387 15 48430736 T C Pathogenic/Likely pathogenic FBN1 . . . . . . . . . . 15 48430736 48430736 T C exonic FBN1 . nonsynonymous SNV FBN1:NM_000138:exon56:c.T6806G:p.I2269S 15q21.1 . . 0.015 D 0.96 D 0.761 P 0.000 D 1 D 2.295 M -2.98 D -4.75 D 0.9 6.737 32 0.995 0.993 D 0.757 D 0.823 D 0.719 0 5.91 1.062 1.199 0.998 0.995 16.010 Deleterious
1388 15 48432947 C T Pathogenic/Likely pathogenic FBN1 . . . . . . . . . . 15 48432947 48432947 C T exonic FBN1 . synonymous SNV FBN1:NM_000138:exon55:c.C6658A:p.R2220R 15q21.1 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
1389 15 48437347 C T Pathogenic/Likely pathogenic FBN1 . . . . . . . . . . 15 48437347 48437347 C T exonic FBN1 . synonymous SNV FBN1:NM_000138:exon52:c.C6354A:p.I2118I 15q21.1 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
1390 15 48437912 C T Pathogenic FBN1 . . . . . . . . . . 15 48437912 48437912 C T exonic FBN1 . synonymous SNV FBN1:NM_000138:exon51:c.C6169A:p.R2057R 15q21.1 . rs763091520 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
1391 15 48445430 C T Pathogenic FBN1 . . . . . . . . . . 15 48445430 48445430 C T exonic FBN1 . nonsynonymous SNV FBN1:NM_000138:exon48:c.C5863A:p.Q1955K 15q21.1 . . 1.0 T 0.086 B 0.056 B 0.004 N 0.657 D 1.23 L -2.91 D -0.4 N 0.203 2.143 17.13 0.859 0.956 D -0.152 T 0.596 D 0.707 0 4.84 0.917 1.048 0.999 0.998 11.276 Deleterious
1392 15 48446701 G A Pathogenic FBN1 . . . . . . . . . . 15 48446701 48446701 G A intronic FBN1 . . . 15q21.1 . rs193922219 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . probably Tolerated (Intron)
1393 15 48452603 G A Pathogenic/Likely pathogenic FBN1 . . . . . . . . . . 15 48452603 48452603 G A exonic FBN1 . nonsynonymous SNV FBN1:NM_000138:exon45:c.G5504T:p.C1835F 15q21.1 . . 0.001 D 0.996 D 0.996 D 0.000 D 1 D 4.41 H -6.49 D -10.16 D 1.0 7.512 34 0.993 0.991 D 0.936 D 0.994 D 0.732 0 5.49 0.871 0.935 0.998 0.999 19.339 Deleterious
1394 15 48456691 C T Pathogenic FBN1 . . . . . . . . . . 15 48456691 48456691 C T exonic FBN1 . synonymous SNV FBN1:NM_000138:exon44:c.C5368A:p.R1790R 15q21.1 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
1395 15 48460258 G A Pathogenic FBN1 . . . . . . . . . . 15 48460258 48460258 G A exonic FBN1 . nonsynonymous SNV FBN1:NM_000138:exon43:c.G5284T:p.G1762C 15q21.1 . . 0.001 D 1.0 D 0.952 D 0.000 N 1.000 D 2.955 M -1.69 D -6.36 D 0.493 6.154 28.5 0.995 0.884 D 0.694 D 0.749 D 0.840 0 5.23 0.871 0.935 0.979 0.974 16.467 Deleterious
1396 15 48465580 C T Pathogenic FBN1 . . . . . . . . . . 15 48465580 48465580 C T exonic FBN1 . synonymous SNV FBN1:NM_000138:exon40:c.C4930A:p.R1644R 15q21.1 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
1397 15 48465820 C T Pathogenic FBN1 . . . . . . . . . . 15 48465820 48465820 C T exonic FBN1 . synonymous SNV FBN1:NM_000138:exon39:c.C4786A:p.R1596R 15q21.1 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
1398 15 48468070 C T Pathogenic FBN1 . . . . . . . . . . 15 48468070 48468070 C T exonic FBN1 . synonymous SNV FBN1:NM_000138:exon38:c.C4615A:p.R1539R 15q21.1 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
1399 15 48468097 C T Pathogenic FBN1 . . . . . . . . . . 15 48468097 48468097 C T exonic FBN1 . nonsynonymous SNV FBN1:NM_000138:exon38:c.C4588A:p.R1530S 15q21.1 . . 0.001 D 0.999 D 0.996 D 0.000 D 1.000 D 1.53 L -3.17 D -5.25 D 0.89 7.084 33 0.998 0.981 D 0.660 D 0.829 D 0.707 0 5.14 0.917 1.048 0.973 1.000 13.386 Deleterious
1400 15 48468542 G A Pathogenic/Likely pathogenic FBN1 . . . . . . . . . . 15 48468542 48468542 G A intronic FBN1 . . . 15q21.1 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . probably Tolerated (Intron)
1401 15 48487431 A G Pathogenic/Likely pathogenic FBN1 . . . . . . . . . . 15 48487431 48487431 A G exonic FBN1 . nonsynonymous SNV FBN1:NM_000138:exon28:c.A3344C:p.D1115A 15q21.1 . . 0.002 D 0.662 P 0.357 B 0.000 D 1 D 3.22 M -3.74 D -6.55 D 0.85 6.059 28.1 0.997 0.996 D 0.983 D 0.888 D 0.707 0 5.6 0.991 1.061 0.991 0.986 15.442 Deleterious
1402 15 48488233 G A Pathogenic FBN1 . . . . . . . . . . 15 48488233 48488233 G A exonic FBN1 . stopgain FBN1:NM_000138:exon27:c.G3217T:p.E1073X 15q21.1 . . . . . . . . 0.000 D 1 A . . . . . . . 15.085 49 0.998 0.993 D . . . . 0.707 0 6.17 0.871 0.935 0.990 0.985 20.474 Deleterious (FATHMM)
1403 15 48489896 G A Pathogenic FBN1 . . . . . . . . . . 15 48489896 48489896 G A exonic FBN1 . stopgain FBN1:NM_000138:exon25:c.G3037T:p.G1013X 15q21.1 . . . . . . . . 0.000 D 1 A . . . . . . . 14.273 45 0.993 0.993 D . . . . 0.707 0 5.56 0.871 0.935 0.998 0.998 19.107 Deleterious (FATHMM)
1404 15 48489980 G A Pathogenic/Likely pathogenic FBN1 . . . . . . . . . . 15 48489980 48489980 G A exonic FBN1 . nonsynonymous SNV FBN1:NM_000138:exon25:c.G2953T:p.G985W 15q21.1 . . 0.0 D 1.0 D 1.0 D 0.000 D 1 D 3.045 M -4.42 D -7.47 D 0.959 7.785 35 0.996 0.990 D 1.095 D 0.959 D 0.707 0 5.66 0.871 0.935 0.999 0.604 19.327 Deleterious
1405 15 48495575 C A Pathogenic/Likely pathogenic FBN1 . . . . . . . . . . 15 48495575 48495575 C A exonic FBN1 . synonymous SNV FBN1:NM_000138:exon21:c.C2433T:p.C811C 15q21.1 . rs193921256 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
1406 15 48510065 C T Pathogenic FBN1 . . . . . . . . . . 15 48510065 48510065 C T exonic FBN1 . synonymous SNV FBN1:NM_000138:exon14:c.C1693A:p.R565R 15q21.1 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
1407 15 48510125 C T Pathogenic FBN1 . . . . . . . . . . 15 48510125 48510125 C T exonic FBN1 . nonsynonymous SNV FBN1:NM_000138:exon14:c.C1633A:p.R545S 15q21.1 . . 0.002 D 0.997 D 0.995 D 0.000 D 1 D 1.345 L -2.86 D -5.44 D 0.83 7.241 34 0.998 0.989 D 0.576 D 0.786 D 0.732 0 5.5 0.917 0.902 0.900 0.695 18.317 Deleterious
1408 15 48513591 C T Pathogenic FBN1 . . . . . . . . . . 15 48513591 48513591 C T exonic FBN1 . synonymous SNV FBN1:NM_000138:exon13:c.C1546A:p.R516R 15q21.1 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
1409 15 48515382 G A Pathogenic FBN1 . . . . . . . . . . 15 48515382 48515382 G A intronic FBN1 . . . 15q21.1 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . probably Tolerated (Intron)
1410 15 48516225 C T Pathogenic FBN1 . . . . . . . . . . 15 48516225 48516225 C T exonic FBN1 . synonymous SNV FBN1:NM_000138:exon11:c.C1285A:p.R429R 15q21.1 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
1411 15 48537629 C T Pathogenic FBN1 . . . . . . . . . . 15 48537629 48537629 C T exonic FBN1 . nonsynonymous SNV FBN1:NM_000138:exon7:c.C718A:p.R240S 15q21.1 . . 0.065 T 0.993 D 0.982 D 0.000 D 1 D -0.23 N -1.59 D -3.59 D 0.91 5.915 27.5 0.998 0.939 D -0.364 T 0.435 T 0.507 0 4.49 -0.045 1.048 0.951 0.998 15.755 Tolerated
1412 15 48537704 C T Pathogenic FBN1 . . . . . . . . . . 15 48537704 48537704 C T exonic FBN1 . synonymous SNV FBN1:NM_000138:exon7:c.C643A:p.R215R 15q21.1 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
1413 15 48600217 C T Pathogenic FBN1 . . . . . . . . . . 15 48600217 48600217 C T exonic FBN1 . nonsynonymous SNV FBN1:NM_000138:exon5:c.C364A:p.R122S 15q21.1 . . 0.361 T 0.997 D 0.987 D 0.000 D 1.000 D 1.13 L -1.46 T -2.49 N 0.877 5.298 25.7 0.998 0.943 D -0.239 T 0.525 D 0.707 0 6.17 0.917 1.048 0.990 0.969 14.149 Deleterious
1414 15 48613009 G A Pathogenic FBN1 . . . . . . . . . . 15 48613009 48613009 G A splicing FBN1 NM_000138:exon3:c.247+1C>T . . 15q21.1 . . . . . . . . . . 1 D . . . . . . . 6.199 28.7 0.996 0.984 D . . . . 0.162 0 5.12 0.871 0.892 0.996 1.000 18.742 Deleterious (FATHMM)
1415 15 63057028 T C Pathogenic TPM1 . . . . . . . . . . 15 63057028 63057028 T C exonic TPM1 . nonsynonymous SNV TPM1:NM_001018008:exon2:c.T176C:p.V59A,TPM1:NM_001301289:exon2:c.T176C:p.V59A,TPM1:NM_000366:exon3:c.T284C:p.V95A,TPM1:NM_001018004:exon3:c.T284C:p.V95A,TPM1:NM_001018005:exon3:c.T284C:p.V95A,TPM1:NM_001018006:exon3:c.T284C:p.V95A,TPM1:NM_001018007:exon3:c.T284C:p.V95A,TPM1:NM_001018020:exon3:c.T284C:p.V95A,TPM1:NM_001301244:exon3:c.T284C:p.V95A 15q22.2 . rs104894504 0.001 D 0.954 P 0.97 D 0.000 D 1 A 3.67 H -4.48 D -2.79 D 0.913 4.855 24.9 0.967 0.934 D 1.096 D 0.963 D 0.672 0 5.72 0.991 1.011 1.000 1.000 15.181 Deleterious
1416 15 63060899 G A Pathogenic TPM1 . . . . . . . . . . 15 63060899 63060899 G A exonic TPM1 . nonsynonymous SNV TPM1:NM_001018008:exon4:c.G415A:p.D139N,TPM1:NM_001301289:exon4:c.G415A:p.D139N,TPM1:NM_000366:exon5:c.G523A:p.D175N,TPM1:NM_001018004:exon5:c.G523A:p.D175N,TPM1:NM_001018005:exon5:c.G523A:p.D175N,TPM1:NM_001018006:exon5:c.G523A:p.D175N,TPM1:NM_001018007:exon5:c.G523A:p.D175N,TPM1:NM_001018020:exon5:c.G523A:p.D175N,TPM1:NM_001301244:exon5:c.G523A:p.D175N 15q22.2 . rs104894503 0.042 D 0.986 D 0.926 D 0.000 D 1 A 3.23 M -4.83 D -3.13 D 0.382 6.691 32 0.998 0.972 D 1.095 D 0.970 D 0.672 0 5.8 0.917 0.998 0.990 0.996 19.038 Deleterious
1417 15 63062263 G A Pathogenic TPM1 . . . . . . . . . . 15 63062263 63062263 G A exonic TPM1 . nonsynonymous SNV TPM1:NM_001018008:exon6:c.G580A:p.D194N,TPM1:NM_001301289:exon6:c.G580A:p.D194N,TPM1:NM_000366:exon7:c.G688A:p.D230N,TPM1:NM_001018004:exon7:c.G688A:p.D230N,TPM1:NM_001018005:exon7:c.G688A:p.D230N,TPM1:NM_001018006:exon7:c.G688A:p.D230N,TPM1:NM_001018007:exon7:c.G688A:p.D230N,TPM1:NM_001018020:exon7:c.G688A:p.D230N,TPM1:NM_001301244:exon7:c.G688A:p.D230N 15q22.2 . rs199476317 0.057 T 1.0 D 0.998 D 0.000 D 1 D 2.65 M -1.21 T -2.57 D 0.254 5.806 27.1 0.998 0.977 D 0.176 D 0.657 D 0.672 0 5.84 0.917 1.048 1.000 0.998 19.123 Deleterious
1418 15 65021533 C T Pathogenic MTFMT . . . . . . . . . . 15 65021533 65021533 C T exonic MTFMT . stopgain MTFMT:NM_139242:exon4:c.C626A:p.S209X 15q22.31 . . . . . . . . 0.001 N 1 A . . . . . . . 12.536 39 0.984 0.996 D . . . . 0.706 0 5.48 0.917 1.048 0.984 0.996 18.117 Deleterious (FATHMM)
1419 15 66435145 G A Pathogenic MAP2K1 . . . . . . . . . . 15 66435145 66435145 G A exonic MAP2K1 . nonsynonymous SNV MAP2K1:NM_002755:exon2:c.G199A:p.D67N 15q22.31 . rs727504317 0.021 D 0.999 D 0.928 D 0.000 D 1 D 2.25 M -3.3 D -3.3 D 0.126 5.390 26.0 0.999 0.990 D -0.304 T 0.395 T 0.737 0 5.24 0.917 0.902 0.998 0.998 17.830 Tolerated
1420 15 66436837 G T Pathogenic/Likely pathogenic MAP2K1 . . . . . . . . . . 15 66436837 66436837 G T exonic MAP2K1 . nonsynonymous SNV MAP2K1:NM_002755:exon3:c.G383T:p.G128V 15q22.31 . rs121908596 0.002 D 0.999 D 0.993 D 0.000 D 1 A 0.975 L -3.25 D -8.33 D 0.992 6.735 32 0.998 0.993 D 0.748 D 0.826 D 0.707 0 5.15 0.917 0.953 0.998 0.999 18.656 Deleterious
1421 15 66436843 A G Pathogenic MAP2K1 . . . . . . . . . . 15 66436843 66436843 A G exonic MAP2K1 . nonsynonymous SNV MAP2K1:NM_002755:exon3:c.A389G:p.Y130C 15q22.31 . rs121908595 0.0 D 1.0 D 0.999 D 0.000 D 1 A 3.005 M -3.39 D -7.94 D 0.987 6.344 29.3 0.998 0.991 D 1.030 D 0.904 D 0.707 0 5.15 1.062 1.088 0.995 0.995 15.008 Deleterious
1422 15 71811481 A C Pathogenic/Likely pathogenic NR2E3 . . . . . . . . . . 15 71811481 71811481 A C splicing NR2E3 NM_014249:exon2:c.119-2A>C,NM_016346:exon2:c.119-2A>C . . 15q23 . rs2723341 . . . . . . . . . . . . . . . . . 2.258 17.89 0.936 0.763 D . . . . 0.057 0 3.69 0.936 1.030 0.691 0.947 6.843 Deleterious (FATHMM)
1423 15 71811530 G A Pathogenic/Likely pathogenic NR2E3 . . . . . . . . . . 15 71811530 71811530 G A exonic NR2E3 . nonsynonymous SNV NR2E3:NM_014249:exon2:c.G166A:p.G56R,NR2E3:NM_016346:exon2:c.G166A:p.G56R 15q23 . rs121912631 . . 1.0 D 0.999 D 0.000 D . . 3.2 M . . . . 0.791 2.094 16.82 0.928 0.986 D 0.277 D 0.480 T 0.056 0 3.98 0.809 0.903 0.999 0.978 10.837 Tolerated
1424 15 71813573 G A Pathogenic/Likely pathogenic NR2E3 . . . . . . . . . . 15 71813573 71813573 G A exonic NR2E3 . nonsynonymous SNV NR2E3:NM_014249:exon6:c.G932A:p.R311Q,NR2E3:NM_016346:exon6:c.G932A:p.R311Q 15q23 0.0002 rs28937873 . . 0.627 P 0.171 B 0.000 D . . 1.415 L . . . . 0.244 1.690 14.35 0.821 0.781 D -0.980 T 0.048 T 0.078 0 3.32 0.032 1.048 0.052 0.467 2.557 Tolerated
1425 15 72345476 G A Pathogenic/Likely pathogenic HEXA . . . . . . . . . . 15 72345476 72345476 G A exonic HEXA . nonsynonymous SNV HEXA:NM_000520:exon13:c.G1496T:p.R499L 15q23 . . 0.0 D 1.0 D 1.0 D 0.000 D 1 D 3.52 H -4.45 D -6.5 D 0.991 7.047 33 0.998 0.994 D 1.091 D 0.966 D 0.732 0 5.71 0.871 0.935 0.093 0.024 19.868 Deleterious
1426 15 72348047 G A Pathogenic HEXA . . . . . . . . . . 15 72348047 72348047 G A splicing HEXA NM_000520:exon9:c.1073+1C>T . . 15q23 . . . . . . . . . . 1 D . . . . . . . 6.357 29.4 0.996 0.995 D . . . . 0.295 0 5.55 0.871 0.852 0.995 1.000 17.685 Deleterious (FATHMM)
1427 15 72350518 G A Pathogenic HEXA . . . . . . . . . . 15 72350518 72350518 G A exonic HEXA . nonsynonymous SNV HEXA:NM_000520:exon7:c.G805T:p.G269C 15q23 . . 0.001 D 1.0 D 1.0 D 0.000 D 1 D 3.555 H -3.77 D -8.5 D 0.919 7.693 35 0.997 0.998 D 1.081 D 0.951 D 0.732 0 5.87 0.871 0.852 0.989 1.000 20.223 Deleterious
1428 15 72355562 C T Pathogenic HEXA . . . . . . . . . . 15 72355562 72355562 C T exonic HEXA . synonymous SNV HEXA:NM_000520:exon3:c.C409A:p.R137R 15q23 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
1429 15 72375971 T C Pathogenic/Likely pathogenic HEXA . . . . . . . . . . 15 72375971 72375971 T C exonic HEXA . nonsynonymous SNV HEXA:NM_000520:exon1:c.T2G:p.M1R 15q23 . . 0.0 D 0.0 B 0.001 B 0.065 N 1 D . . -4.07 D -1.02 N 0.834 3.561 23.1 0.963 0.954 D 0.310 D 0.740 D 0.442 0 2.19 1.062 1.088 0.010 0.270 4.084 Deleterious
1430 15 76274431 C T Pathogenic/Likely pathogenic ETFA . . . . . . . . . . 15 76274431 76274431 C T exonic ETFA . nonsynonymous SNV ETFA:NM_001127716:exon8:c.C650A:p.T217K,ETFA:NM_000126:exon9:c.C797A:p.T266K 15q24.2 . . 0.001 D 1.0 D 0.971 D 0.000 D 1 D 4.94 H -3.32 D -5.59 D 0.928 7.618 34 0.993 0.986 D 1.090 D 0.954 D 0.781 0 5.91 0.917 1.044 0.998 0.995 18.865 Deleterious
1431 15 76311387 T C Pathogenic/Likely pathogenic ETFA . . . . . . . . . . 15 76311387 76311387 T C exonic ETFA . nonsynonymous SNV ETFA:NM_000126:exon1:c.T2G:p.M1R,ETFA:NM_001127716:exon1:c.T2G:p.M1R 15q24.3 . . 0.001 D 0.676 P 0.227 B 0.000 D 1 D . . -1.38 T 0.53 N 0.867 2.494 19.43 0.820 0.928 D 0.251 D 0.621 D 0.442 0 3.42 0.722 1.002 0.295 0.288 8.549 Deleterious
1432 15 80168263 G T Pathogenic FAH . . . . . . . . . . 15 80168263 80168263 G T splicing FAH NM_000137:exon7:c.554-1G>T . . 15q25.1 0.0002 rs80338895 . . . . . . . . 1 A . . . . . . . 3.571 23.1 0.989 0.996 D . . . . 0.295 0 5.58 0.917 1.048 0.740 0.148 18.346 Deleterious (FATHMM)
1433 15 80173089 C T Pathogenic FAH . . . . . . . . . . 15 80173089 80173089 C T exonic FAH . nonsynonymous SNV FAH:NM_000137:exon9:c.C782T:p.P261L 15q25.1 7.7e-05 rs80338898 0.0 D 1.0 D 0.999 D 0.000 D 1 A 4.51 H -5.68 D -9.41 D 0.983 6.422 29.7 0.998 0.914 D 0.968 D 0.989 D 0.737 0 4.58 0.871 0.852 0.999 0.759 16.126 Deleterious
1434 15 80180230 G A Pathogenic FAH . . . . . . . . . . 15 80180230 80180230 G A intronic FAH . . . 15q25.1 0.0005 rs80338901 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . probably Tolerated (Intron)
1435 15 89319065 C T Pathogenic/Likely pathogenic POLG . . . . . . . . . . 15 89319065 89319065 C T exonic POLG . synonymous SNV POLG:NM_001126131:exon20:c.C3139A:p.R1047R,POLG:NM_002693:exon20:c.C3139A:p.R1047R 15q26.1 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
1436 15 89320877 C T Pathogenic/Likely pathogenic POLG . . . . . . . . . . 15 89320877 89320877 C T exonic POLG . nonsynonymous SNV POLG:NM_001126131:exon18:c.C2870A:p.A957D,POLG:NM_002693:exon18:c.C2870A:p.A957D 15q26.1 . . 0.0 D 1.0 D 0.999 D 0.000 D 1 D 3.205 M -5.19 D -5.66 D 0.996 6.289 29.1 0.998 0.978 D 1.080 D 0.977 D 0.672 0 5.24 0.917 1.048 0.998 0.973 18.819 Deleterious
1437 15 89321007 A C Pathogenic POLG . . . . . . . . . . 15 89321007 89321007 A C exonic POLG . nonsynonymous SNV POLG:NM_001126131:exon18:c.A2740G:p.T914A,POLG:NM_002693:exon18:c.A2740G:p.T914A 15q26.1 . . 0.0 D 0.999 D 0.996 D 0.000 D 1 D 3.07 M -4.18 D -4.78 D 0.915 4.820 24.8 0.998 0.981 D 1.095 D 0.945 D 0.672 0 5.24 0.991 1.061 0.987 0.998 15.135 Deleterious
1438 15 89321792 G A Pathogenic POLG . . . . . . . . . . 15 89321792 89321792 G A exonic POLG . nonsynonymous SNV POLG:NM_001126131:exon16:c.G2542T:p.G848C,POLG:NM_002693:exon16:c.G2542T:p.G848C 15q26.1 . . 0.0 D 1.0 D 1.0 D 0.000 D 1 D 3.245 M -5.35 D -8.9 D 0.978 7.405 34 0.998 0.994 D 1.065 D 0.979 D 0.672 0 4.56 0.871 0.935 0.999 0.995 15.416 Deleterious
1439 15 89323426 G C Pathogenic POLG . . . . . . . . . . 15 89323426 89323426 G C exonic POLG . synonymous SNV POLG:NM_001126131:exon13:c.G2243G:p.W748W,POLG:NM_002693:exon13:c.G2243G:p.W748W 15q26.1 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
1440 15 89327201 G A Pathogenic POLG . . . . . . . . . . 15 89327201 89327201 G A exonic POLG . nonsynonymous SNV POLG:NM_001126131:exon7:c.G1399T:p.A467S,POLG:NM_002693:exon7:c.G1399T:p.A467S 15q26.1 . . 0.046 D 0.999 D 0.991 D 0.000 D 1 D 2.265 M -3.1 D -2.48 N 0.69 6.027 27.9 0.997 0.991 D 0.872 D 0.864 D 0.707 0 5.0 0.871 0.892 0.996 0.980 18.482 Deleterious
1441 15 89631662 G T Pathogenic KIF7 . . . . . . . . . . 15 89631662 89631662 G T exonic KIF7 . nonsynonymous SNV KIF7:NM_198525:exon15:c.G2944A:p.E982K 15q26.1 . . 0.003 D 0.999 D 0.995 D 0.000 D 1 D 2.175 M 1.01 T -3.34 D 0.594 7.151 34 0.999 0.966 D -0.720 T 0.257 T 0.672 0 5.18 0.871 0.935 0.997 1.000 18.683 Tolerated
1442 15 89652870 C T Pathogenic KIF7 . . . . . . . . . . 15 89652870 89652870 C T exonic KIF7 . synonymous SNV KIF7:NM_198525:exon2:c.C61A:p.R21R 15q26.1 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
1443 15 90088702 G A Pathogenic IDH2 . . . . . . . . . . 15 90088702 90088702 G A exonic IDH2 . nonsynonymous SNV IDH2:NM_001290114:exon2:c.G29T:p.R10L,IDH2:NM_001289910:exon4:c.G263T:p.R88L,IDH2:NM_002168:exon4:c.G419T:p.R140L 15q26.1 . . 0.0 D 0.996 D 0.964 D 0.000 D 1 D 3.89 H -2.23 D -6.58 D 0.988 5.978 27.8 0.998 0.988 D 0.907 D 0.846 D 0.745 0 4.75 0.871 0.935 0.990 1.000 12.446 Deleterious
1444 15 90761015 C T Pathogenic BLM . . . . . . . . . . 15 90761015 90761015 C T exonic BLM . stopgain BLM:NM_000057:exon7:c.C1642T:p.Q548X,BLM:NM_001287247:exon7:c.C1642T:p.Q548X,BLM:NM_001287248:exon7:c.C517T:p.Q173X,BLM:NM_001287246:exon8:c.C1642T:p.Q548X 15q26.1 0.0002 rs200389141 . . . . . . 0.687 N 1 A . . . . . . . 9.073 35 0.997 0.879 D . . . . 0.707 0 4.93 0.033 0.892 0.001 0.064 13.900 Deleterious (FATHMM)
1445 15 90784953 C T Pathogenic/Likely pathogenic BLM . . . . . . . . . . 15 90784953 90784953 C T exonic BLM . stopgain BLM:NM_000057:exon14:c.C2695T:p.R899X,BLM:NM_001287247:exon14:c.C2695T:p.R899X,BLM:NM_001287248:exon14:c.C1570T:p.R524X,BLM:NM_001287246:exon15:c.C2695T:p.R899X 15q26.1 . rs587779884 . . . . . . 0.006 N 1 A . . . . . . . 11.042 37 0.992 0.387 N . . . . 0.732 0 0.359 -0.022 -1.151 0.974 0.872 8.760 Deleterious (DANN)
1446 16 2057179 G A Pathogenic TSC2 . . . . . . . . . . 16 2057179 2057179 G A splicing TSC2 NM_001077183:exon9:c.848+1G>A,NM_000548:exon9:c.848+1G>A,NM_001114382:exon9:c.848+1G>A . . 16p13.3 . rs45466296 . . . . . . . . 1 D . . . . . . . 4.147 23.8 0.993 0.971 D . . . . 0.257 0 4.65 0.917 0.953 0.976 0.703 17.876 Deleterious (FATHMM)
1447 16 2074254 T C Pathogenic/Likely pathogenic, not provided TSC2 . . . . . . . . . . 16 2074254 2074254 T C exonic TSC2 . nonsynonymous SNV TSC2:NM_000548:exon22:c.T2410C:p.C804R,TSC2:NM_001077183:exon22:c.T2410C:p.C804R,TSC2:NM_001114382:exon22:c.T2410C:p.C804R 16p13.3 . rs137853995 0.001 D 1.0 D 1.0 D 0.000 D 1 D 2.66 M -3.23 D -9.7 D 0.989 5.546 26.4 0.998 0.985 D 1.000 D 0.893 D 0.707 0 5.35 0.991 0.913 0.996 0.952 15.327 Deleterious
1448 16 2076142 G A Pathogenic TSC2 . . . . . . . . . . 16 2076142 2076142 G A exonic TSC2 . nonsynonymous SNV TSC2:NM_000548:exon24:c.G2714A:p.R905Q,TSC2:NM_001077183:exon24:c.G2714A:p.R905Q,TSC2:NM_001114382:exon24:c.G2714A:p.R905Q 16p13.3 . rs45517259 0.0 D 1.0 D 0.996 D 0.000 D 1 A 2.165 M -3.58 D -3.61 D 0.978 7.568 34 1.000 0.991 D 1.077 D 0.930 D 0.707 0 5.09 0.917 0.949 0.998 0.998 18.513 Deleterious
1449 16 2080179 C T Pathogenic TSC2 . . . . . . . . . . 16 2080179 2080179 C T exonic TSC2 . stopgain TSC2:NM_001077183:exon29:c.C3280T:p.R1094X,TSC2:NM_000548:exon30:c.C3412T:p.R1138X,TSC2:NM_001114382:exon30:c.C3412T:p.R1138X 16p13.3 . rs45451497 . . . . . . 0.004 N 1 A . . . . . . . 13.057 41 0.997 0.986 D . . . . 0.707 0 4.74 0.871 0.932 0.923 0.121 12.803 Deleterious (FATHMM)
1450 16 2080365 C T Pathogenic TSC2 . . . . . . . . . . 16 2080365 2080365 C T exonic TSC2 . nonsynonymous SNV TSC2:NM_001077183:exon29:c.C3466T:p.R1156W,TSC2:NM_000548:exon30:c.C3598T:p.R1200W,TSC2:NM_001114382:exon30:c.C3598T:p.R1200W 16p13.3 . rs45438205 0.0 D 1.0 D 1.0 D 0.001 D 1 D 2.045 M -3.41 D -7.04 D 0.992 8.354 35 0.999 0.870 D 1.009 D 0.895 D 0.707 0 4.74 0.871 0.932 0.998 0.999 17.743 Deleterious
1451 16 2084597 C T Pathogenic TSC2 . . . . . . . . . . 16 2084597 2084597 C T exonic TSC2 . stopgain TSC2:NM_001077183:exon32:c.C4174T:p.R1392X,TSC2:NM_001114382:exon33:c.C4306T:p.R1436X,TSC2:NM_000548:exon34:c.C4375T:p.R1459X 16p13.3 . rs45517340 . . . . . . 0.000 D 1 A . . . . . . . 12.746 40 0.998 0.622 D . . . . 0.672 0 3.02 -0.048 -0.055 0.991 0.929 7.434 Deleterious (FATHMM)
1452 16 2088117 G A Pathogenic TSC2 . . . . . . . . . . 16 2088117 2088117 G A exonic TSC2 . nonsynonymous SNV TSC2:NM_001077183:exon38:c.G4937A:p.R1646H,TSC2:NM_001114382:exon39:c.G5069A:p.R1690H,TSC2:NM_000548:exon40:c.G5138A:p.R1713H 16p13.3 . rs45517395 0.0 D 1.0 D 0.997 D 0.000 D 1 D 3.255 M -3.51 D -4.52 D 0.936 6.265 29.0 0.999 0.976 D 1.086 D 0.927 D 0.632 0 4.51 0.917 0.898 0.985 0.712 17.245 Deleterious
1453 16 2088293 C T Pathogenic TSC2 . . . . . . . . . . 16 2088293 2088293 C T exonic TSC2 . nonsynonymous SNV TSC2:NM_001077183:exon39:c.C5026T:p.R1676W,TSC2:NM_001114382:exon40:c.C5158T:p.R1720W,TSC2:NM_000548:exon41:c.C5227T:p.R1743W 16p13.3 . rs45517412 0.0 D 1.0 D 1.0 D 0.000 D 1.000 D 3.21 M -4.29 D -7.26 D 0.967 7.192 34 0.999 0.639 D 1.073 D 0.948 D 0.672 0 0.035 0.067 -0.202 0.960 0.905 13.319 Deleterious
1454 16 2088294 G A Pathogenic TSC2 . . . . . . . . . . 16 2088294 2088294 G A exonic TSC2 . nonsynonymous SNV TSC2:NM_001077183:exon39:c.G5027A:p.R1676Q,TSC2:NM_001114382:exon40:c.G5159A:p.R1720Q,TSC2:NM_000548:exon41:c.G5228A:p.R1743Q 16p13.3 . rs45507199 0.0 D 1.0 D 1.0 D 0.000 D 1 D 3.21 M -4.23 D -3.63 D 0.971 7.553 34 1.000 0.958 D 1.106 D 0.957 D 0.672 0 4.21 0.917 0.898 0.956 0.926 16.949 Deleterious
1455 16 2317763 A T Pathogenic/Likely pathogenic ABCA3 . . . . . . . . . . 16 2317763 2317763 A T exonic ABCA3 . synonymous SNV ABCA3:NM_001089:exon9:c.A875A:p.E292E 16p13.3 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
1456 16 2496872 C T Pathogenic TBC1D24 . . . . . . . . . . 16 2496872 2496872 C T exonic TBC1D24 . nonsynonymous SNV TBC1D24:NM_001199107:exon2:c.C724T:p.R242C,TBC1D24:NM_020705:exon2:c.C724T:p.R242C 16p13.3 . rs398122965 0.0 D 1.0 D 1.0 D 0.000 D 1 D 2.835 M 1.85 T -7.82 D 0.996 5.813 27.2 0.999 0.935 D -0.618 T 0.196 T 0.615 0 4.2 -0.058 0.845 0.921 0.865 15.343 Tolerated
1457 16 3243205 G A Pathogenic MEFV . . . . . . . . . . 16 3243205 3243205 G A exonic MEFV . nonsynonymous SNV MEFV:NM_000243:exon10:c.G2282T:p.R761L 16p13.3 . . 0.191 T 0.064 B 0.071 B 0.143 N 1 N -0.37 N 0.21 T -2.05 N 0.373 1.226 11.88 0.943 0.025 N -1.020 T 0.077 T 0.497 0 1.26 0.057 -0.277 0.645 0.237 6.360 Tolerated
1458 16 3243257 G T Pathogenic/Likely pathogenic, not provided MEFV . . . . . . . . . . 16 3243257 3243257 G T exonic MEFV . nonsynonymous SNV MEFV:NM_000243:exon10:c.G2230A:p.A744T 16p13.3 . . 1.0 T 0.0 B 0.0 B 0.065 N 1 D -2.405 N -0.31 T 2.32 N 0.287 -1.628 0.002 0.243 0.017 N -0.886 T 0.033 T 0.497 0 -3.05 -2.094 -0.760 0.009 0.000 4.186 Tolerated
1459 16 3243310 T C Pathogenic MEFV . . . . . . . . . . 16 3243310 3243310 T C exonic MEFV . nonsynonymous SNV MEFV:NM_000243:exon10:c.T2177G:p.V726G 16p13.3 . . 0.13 T 0.001 B 0.003 B 0.016 N 1 N -0.885 N -0.26 T -0.74 N 0.258 0.186 4.526 0.677 0.059 N -1.034 T 0.092 T 0.497 0 -0.518 -0.056 -0.353 0.161 0.001 3.080 Tolerated
1460 16 3243403 A G Pathogenic/Likely pathogenic, not provided MEFV . . . . . . . . . . 16 3243403 3243403 A G exonic MEFV . nonsynonymous SNV MEFV:NM_000243:exon10:c.A2084C:p.K695T 16p13.3 . . 0.051 T 0.994 D 0.931 D 0.965 N 1 N 2.215 M 0.11 T -1.99 N 0.657 1.868 15.39 0.995 0.155 N -0.871 T 0.287 T 0.516 0 0.964 0.018 0.964 0.087 0.609 1.633 Tolerated
1461 16 3243405 G A Pathogenic MEFV . . . . . . . . . . 16 3243405 3243405 G A exonic MEFV . nonsynonymous SNV MEFV:NM_000243:exon10:c.G2082T:p.M694I 16p13.3 . . 0.344 T 0.786 P 0.337 B 0.587 N 1 N 1.315 L -0.3 T -1.79 N 0.858 -0.382 0.427 0.631 0.142 N -0.930 T 0.184 T 0.516 0 -1.75 0.008 0.700 0.237 0.853 5.000 Tolerated
1462 16 3243407 A G Pathogenic MEFV . . . . . . . . . . 16 3243407 3243407 A G exonic MEFV . nonsynonymous SNV MEFV:NM_000243:exon10:c.A2080C:p.M694L 16p13.3 . . 1.0 T 0.01 B 0.022 B 0.587 N 1.000 N 0.485 N -0.24 T -1.16 N 0.881 -1.290 0.005 0.279 0.708 D -0.990 T 0.138 T 0.516 0 2.15 0.054 0.789 0.396 0.921 4.659 Tolerated
1463 16 3243447 G C Pathogenic MEFV . . . . . . . . . . 16 3243447 3243447 G C exonic MEFV . synonymous SNV MEFV:NM_000243:exon10:c.G2040G:p.M680M 16p13.3 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
1464 16 3243529 G A Pathogenic MEFV . . . . . . . . . . 16 3243529 3243529 G A exonic MEFV . nonsynonymous SNV MEFV:NM_000243:exon10:c.G1958T:p.R653L 16p13.3 . . 0.015 D 0.032 B 0.031 B 0.870 N 1 N 0.975 L 0.22 T -1.84 N 0.366 2.666 20.6 0.979 0.038 N -0.933 T 0.144 T 0.554 0 1.62 -0.845 0.085 0.006 0.065 8.039 Tolerated
1465 16 3749631 G A Pathogenic CREBBP . . . . . . . . . . 16 3749631 3749631 G A exonic CREBBP . stopgain CREBBP:NM_001079846:exon20:c.G3718T:p.E1240X,CREBBP:NM_004380:exon21:c.G3832T:p.E1278X 16p13.3 . . . . . . . . 0.000 D 1 A . . . . . . . 14.653 47 0.997 0.984 D . . . . 0.732 0 5.81 0.871 0.935 0.999 0.988 18.646 Deleterious (FATHMM)
1466 16 3751725 G A Pathogenic CREBBP . . . . . . . . . . 16 3751725 3751725 G A splicing CREBBP NM_004380:exon20:c.3779+1C>T,NM_001079846:exon19:c.3665+1C>T . . 16p13.3 . . . . . . . . . . 1 D . . . . . . . 5.289 25.7 0.995 0.989 D . . . . 0.295 0 5.35 0.871 0.935 0.999 1.000 19.073 Deleterious (FATHMM)
1467 16 5082565 C T Pathogenic/Likely pathogenic ALG1 . . . . . . . . . . 16 5082565 5082565 C T exonic ALG1 . nonsynonymous SNV ALG1:NM_019109:exon11:c.C1079T:p.A360V 16p13.3 . rs398124348 0.031 D 0.998 D 0.94 D 0.000 D 1 D 3.27 M -2.27 D -3.26 D 0.908 6.895 33 0.999 0.901 D 0.789 D 0.806 D 0.660 0 4.33 0.871 0.062 0.870 0.866 12.079 Deleterious
1468 16 8811088 C A Pathogenic PMM2 . . . . . . . . . . 16 8811088 8811088 C A exonic PMM2 . nonsynonymous SNV PMM2:NM_000303:exon5:c.C357A:p.F119L 16p13.2 . rs80338701 0.001 D 1.0 D 0.996 D 0.000 D 1 A 3.635 H -5.43 D -5.82 D 0.973 6.825 32 0.997 0.930 D 1.114 D 0.979 D 0.707 0 5.43 0.871 0.888 1.000 0.996 9.941 Deleterious
1469 16 8811116 G A Pathogenic/Likely pathogenic PMM2 . . . . . . . . . . 16 8811116 8811116 G A exonic PMM2 . nonsynonymous SNV PMM2:NM_000303:exon5:c.G385A:p.V129M 16p13.2 . rs104894525 0.001 D 1.0 D 0.982 D 0.000 D 1 A 3.165 M -5.21 D -2.25 N 0.871 6.466 29.9 0.999 0.894 D 1.084 D 0.976 D 0.707 0 5.43 0.917 0.994 0.992 0.997 18.231 Deleterious
1470 16 8811153 G A Pathogenic PMM2 . . . . . . . . . . 16 8811153 8811153 G A exonic PMM2 . nonsynonymous SNV PMM2:NM_000303:exon5:c.G422A:p.R141H 16p13.2 0.0039 rs28936415 0.033 D 0.993 D 0.51 P 0.000 D 1 A 3.635 H -5.59 D -4.8 D 0.955 7.497 34 0.999 0.974 D 0.763 D 0.951 D 0.707 0 5.43 0.917 0.994 0.995 0.998 18.231 Deleterious
1471 16 8811660 T C Pathogenic/Likely pathogenic PMM2 . . . . . . . . . . 16 8811660 8811660 T C exonic PMM2 . nonsynonymous SNV PMM2:NM_000303:exon6:c.T470C:p.F157S 16p13.2 0.0007 rs190521996 0.001 D 1.0 D 1.0 D 0.000 D 1 D 3.3 M -4.94 D -5.65 D 0.987 6.469 29.9 0.999 0.967 D 1.092 D 0.970 D 0.707 0 5.22 0.991 1.007 0.998 0.995 14.292 Deleterious
1472 16 8811674 C T Pathogenic/Likely pathogenic PMM2 . . . . . . . . . . 16 8811674 8811674 C T exonic PMM2 . nonsynonymous SNV PMM2:NM_000303:exon6:c.C484T:p.R162W 16p13.2 . rs104894526 0.0 D 0.011 B 0.017 B 0.027 N 0.999 A 2.265 M -5.1 D -5.09 D 0.86 7.368 34 0.980 0.855 D 0.990 D 0.921 D 0.707 0 3.14 -0.040 0.888 0.957 0.990 13.664 Deleterious
1473 16 8847794 C T Pathogenic/Likely pathogenic PMM2 . . . . . . . . . . 16 8847794 8847794 C T exonic PMM2 . nonsynonymous SNV PMM2:NM_000303:exon8:c.C710T:p.T237M 16p13.2 . rs80338708 0.0 D 1.0 D 1.0 D 0.000 D 1 D 3.605 H -5.13 D -5.59 D 0.958 6.190 28.6 0.999 0.964 D 1.067 D 0.979 D 0.707 0 5.22 0.871 0.852 0.380 0.210 18.137 Deleterious
1474 16 8847794 C G Pathogenic PMM2 . . . . . . . . . . 16 8847794 8847794 C G exonic PMM2 . nonsynonymous SNV PMM2:NM_000303:exon8:c.C710G:p.T237R 16p13.2 7.7e-05 rs80338708 0.0 D 1.0 D 1.0 D 0.000 D 1 D 3.605 H -5.15 D -5.47 D 0.969 5.864 27.3 0.993 0.970 D 1.067 D 0.979 D 0.707 0 5.22 0.871 0.852 0.380 0.210 18.137 Deleterious
1475 16 11553576 G A Pathogenic LITAF . . . . . . . . . . 16 11553576 11553576 G A exonic LITAF . nonsynonymous SNV LITAF:NM_001136472:exon3:c.G334T:p.G112C,LITAF:NM_001136473:exon3:c.G334T:p.G112C,LITAF:NM_004862:exon3:c.G334T:p.G112C 16p13.13 . . 0.0 D 1.0 D 1.0 D 0.000 D 1 D 3.66 H -3.39 D -8.93 D 0.992 6.429 29.7 0.997 0.892 D 1.077 D 0.926 D 0.732 0 5.39 0.871 0.935 0.937 0.501 16.665 Deleterious
1476 16 15726915 T C Pathogenic MYH11 . . . . . . . . . . 16 15726915 15726915 T C exonic MYH11 . nonsynonymous SNV MYH11:NM_002474:exon28:c.T3791G:p.L1264R,MYH11:NM_022844:exon28:c.T3791G:p.L1264R,MYH11:NM_001040113:exon29:c.T3812G:p.L1271R,MYH11:NM_001040114:exon29:c.T3812G:p.L1271R 16p13.11 . . 0.044 D 0.958 D 0.936 D 0.000 D 1 D 2.8 M -2.0 D -4.0 D 0.95 5.043 25.2 0.998 0.981 D 0.666 D 0.751 D 0.615 0 4.68 1.062 1.194 0.999 1.000 13.628 Deleterious
1477 16 16163009 C T Pathogenic ABCC6 . . . . . . . . . . 16 16163009 16163009 C T exonic ABCC6 . synonymous SNV ABCC6:NM_001171:exon24:c.C3490A:p.R1164R 16p13.11 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
1478 16 16163078 C T Pathogenic ABCC6 . . . . . . . . . . 16 16163078 16163078 C T exonic ABCC6 . synonymous SNV ABCC6:NM_001171:exon24:c.C3421A:p.R1141R 16p13.11 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
1479 16 23603471 C A Pathogenic PALB2 . . . . . . . . . . 16 23603471 23603471 C A exonic PALB2 . synonymous SNV PALB2:NM_024675:exon13:c.C3549T:p.Y1183Y 16p12.2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
1480 16 23603471 C G Pathogenic/Likely pathogenic, not provided, risk factor PALB2 . . . . . . . . . . 16 23603471 23603471 C G exonic PALB2 . synonymous SNV PALB2:NM_024675:exon13:c.C3549C:p.Y1183Y 16p12.2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
1481 16 23607958 C T Pathogenic/Likely pathogenic, risk factor PALB2 . . . . . . . . . . 16 23607958 23607958 C T exonic PALB2 . synonymous SNV PALB2:NM_024675:exon12:c.C3256A:p.R1086R 16p12.2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
1482 16 23614003 G C Pathogenic/Likely pathogenic PALB2 . . . . . . . . . . 16 23614003 23614003 G C splicing PALB2 NM_024675:exon11:c.3201+1C>G . . 16p12.2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .
1483 16 23622979 G T Pathogenic PALB2 . . . . . . . . . . 16 23622979 23622979 G T exonic PALB2 . nonsynonymous SNV PALB2:NM_024675:exon9:c.G2986A:p.E996K 16p12.2 . . 0.01 D 0.98 D 0.814 P 0.001 D 0.981 N 2.095 M 1.64 T -2.87 D 0.565 6.650 32 0.999 0.757 D -0.925 T 0.144 T 0.707 0 4.88 0.871 0.816 0.994 0.994 12.922 Tolerated
1484 16 23629645 G T Pathogenic PALB2 . . . . . . . . . . 16 23629645 23629645 G T exonic PALB2 . nonsynonymous SNV PALB2:NM_024675:exon5:c.G2509A:p.E837K 16p12.2 . rs587778587 0.146 T 0.922 P 0.186 B 0.001 D 0.671 N 1.78 L 2.39 T -1.91 N 0.165 2.118 16.97 0.902 0.319 N -1.034 T 0.031 T 0.707 0 2.43 0.598 0.060 0.468 0.324 7.220 Tolerated
1485 16 23629768 G T Pathogenic/Likely pathogenic PALB2 . . . . . . . . . . 16 23629768 23629768 G T exonic PALB2 . nonsynonymous SNV PALB2:NM_024675:exon5:c.G2386A:p.G796R 16p12.2 . . 0.006 D 0.617 P 0.221 B 0.552 N 1 N 2.19 M 2.36 T -3.72 D 0.208 2.565 19.89 0.988 0.342 N -1.061 T 0.049 T 0.707 0 3.08 0.871 -0.348 0.158 0.031 8.426 Tolerated
1486 16 23629831 C T Pathogenic, risk factor PALB2 . . . . . . . . . . 16 23629831 23629831 C T exonic PALB2 . nonsynonymous SNV PALB2:NM_024675:exon5:c.C2323A:p.Q775K 16p12.2 . . 0.087 T 0.775 P 0.306 B 0.190 N 1 N 1.95 M 2.46 T -1.93 N 0.136 0.914 10.16 0.927 0.390 N -1.047 T 0.048 T 0.707 0 5.12 0.917 0.998 0.039 0.056 11.689 Tolerated
1487 16 23629897 C T Pathogenic PALB2 . . . . . . . . . . 16 23629897 23629897 C T exonic PALB2 . synonymous SNV PALB2:NM_024675:exon5:c.C2257A:p.R753R 16p12.2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
1488 16 23634893 T A Pathogenic PALB2 . . . . . . . . . . 16 23634893 23634893 T A exonic PALB2 . synonymous SNV PALB2:NM_024675:exon4:c.T1653T:p.Y551Y 16p12.2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
1489 16 23634913 G T Pathogenic PALB2 . . . . . . . . . . 16 23634913 23634913 G T exonic PALB2 . nonsynonymous SNV PALB2:NM_024675:exon4:c.G1633A:p.E545K 16p12.2 . . 0.377 T 0.077 B 0.025 B 0.125 N 1 N 0.895 L 2.62 T -0.8 N 0.242 0.395 6.572 0.976 0.027 N -1.005 T 0.022 T 0.707 0 2.72 0.008 0.077 0.003 0.002 5.726 Tolerated
1490 16 23635306 C T Pathogenic PALB2 . . . . . . . . . . 16 23635306 23635306 C T exonic PALB2 . synonymous SNV PALB2:NM_024675:exon4:c.C1240A:p.R414R 16p12.2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
1491 16 23635795 C T Pathogenic PALB2 . . . . . . . . . . 16 23635795 23635795 C T exonic PALB2 . nonsynonymous SNV PALB2:NM_024675:exon4:c.C751A:p.Q251K 16p12.2 . . 0.283 T 0.07 B 0.033 B 0.510 N 1 N 1.1 L 2.53 T -0.63 N 0.156 -0.221 0.992 0.709 0.293 N -0.974 T 0.030 T 0.707 0 1.69 0.045 -0.098 0.013 0.000 7.525 Tolerated
1492 16 23637865 C T Pathogenic/Likely pathogenic PALB2 . . . . . . . . . . 16 23637865 23637865 C T exonic PALB2 . nonsynonymous SNV PALB2:NM_024675:exon3:c.C196A:p.Q66K 16p12.2 . rs180177083 0.05 D 0.705 P 0.359 B 0.012 N 1 N 2.075 M 1.63 T -1.99 N 0.28 2.929 22.0 0.898 0.244 N -1.023 T 0.089 T 0.651 0 4.69 0.917 1.047 0.343 0.214 10.31 Tolerated
1493 16 23638099 G T Pathogenic PALB2 . . . . . . . . . . 16 23638099 23638099 G T exonic PALB2 . nonsynonymous SNV PALB2:NM_024675:exon2:c.G79A:p.E27K 16p12.2 . . 0.0 D 0.999 D 0.961 D 0.000 D 0.907 D 2.19 M 1.19 T -2.72 D 0.712 6.948 33 0.999 0.885 D -0.572 T 0.222 T 0.672 0 5.5 0.871 0.934 0.998 0.993 16.885 Tolerated
1494 16 30737343 C T Pathogenic SRCAP . . . . . . . . . . 16 30737343 30737343 C T exonic SRCAP . stopgain SRCAP:NM_006662:exon34:c.C7303T:p.R2435X 16p11.2 . rs199469465 . . . . . . 0.080 N 1 A . . . . . . . 9.065 35 0.972 0.280 N . . . . 0.707 0 -0.841 -1.691 -0.929 0.194 0.892 7.133 Deleterious (DANN)
1495 16 30737370 C T Pathogenic SRCAP . . . . . . . . . . 16 30737370 30737370 C T exonic SRCAP . stopgain SRCAP:NM_006662:exon34:c.C7330T:p.R2444X 16p11.2 . rs199469464 . . . . . . 0.742 N 1 A . . . . . . . 14.170 45 0.997 0.964 D . . . . 0.707 0 4.18 0.871 0.807 0.007 0.999 14.095 Deleterious (FATHMM)
1496 16 53652844 A C Pathogenic RPGRIP1L . . . . . . . . . . 16 53652844 53652844 A C exonic RPGRIP1L . nonsynonymous SNV RPGRIP1L:NM_001127897:exon15:c.A1843G:p.T615A,RPGRIP1L:NM_001308334:exon15:c.A1843G:p.T615A,RPGRIP1L:NM_015272:exon15:c.A1843G:p.T615A 16q12.2 . . 0.57 T 0.0 B 0.001 B 0.151 N 0.987 N -0.41 N -2.33 D -0.98 N 0.136 0.765 9.247 0.887 0.756 D -0.841 T 0.299 T 0.638 0 3.15 0.042 0.081 0.981 0.992 8.258 Tolerated
1497 16 56336763 G A Pathogenic GNAO1 . . . . . . . . . . 16 56336763 56336763 G A exonic GNAO1 . nonsynonymous SNV GNAO1:NM_020988:exon6:c.G626A:p.R209H,GNAO1:NM_138736:exon6:c.G626A:p.R209H 16q13 . rs797044878 0.0 D 1.0 D 1.0 D 0.000 D 1 D 3.995 H -3.14 D -4.72 D 0.938 7.668 35 1.000 0.963 D 1.087 D 0.926 D 0.696 0 5.29 0.917 1.048 0.998 1.000 18.958 Deleterious
1498 16 56351396 G A Pathogenic GNAO1 . . . . . . . . . . 16 56351396 56351396 G A exonic GNAO1 . nonsynonymous SNV GNAO1:NM_020988:exon7:c.G736A:p.E246K 16q13 . rs797044951 0.0 D 1.0 D 1.0 D 0.000 D 1 D 4.28 H -2.69 D -3.8 D 0.963 3.185 22.7 0.999 0.990 D 1.058 D 0.922 D 0.646 0 5.91 0.917 1.048 1.000 1.000 20.295 Deleterious
1499 16 56502790 C T Pathogenic BBS2 . . . . . . . . . . 16 56502790 56502790 C T exonic BBS2 . synonymous SNV BBS2:NM_031885:exon8:c.C823A:p.R275R 16q13 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
1500 16 57659534 C T Pathogenic ADGRG1 . . . . . . . . . . 16 57659534 57659534 C T exonic ADGRG1 . stopgain ADGRG1:NM_001145773:exon11:c.C1423T:p.R475X,ADGRG1:NM_001290142:exon11:c.C916T:p.R306X,ADGRG1:NM_001290143:exon11:c.C901T:p.R301X,ADGRG1:NM_001290144:exon11:c.C883T:p.R295X,ADGRG1:NM_201525:exon11:c.C1408T:p.R470X,ADGRG1:NM_001145770:exon12:c.C1408T:p.R470X,ADGRG1:NM_001145771:exon12:c.C1426T:p.R476X,ADGRG1:NM_001145772:exon12:c.C1408T:p.R470X,ADGRG1:NM_001145774:exon12:c.C1408T:p.R470X,ADGRG1:NM_005682:exon12:c.C1426T:p.R476X,ADGRG1:NM_201524:exon12:c.C1408T:p.R470X 16q21 . rs587783652 . . . . . . 0.339 N 1 A . . . . . . . 8.535 35 0.981 0.104 N . . . . 0.707 0 -0.729 0.871 0.892 0.646 0.044 3.838 Deleterious (DANN)
1501 16 68811854 C T Pathogenic CDH1 . . . . . . . . . . 16 68811854 68811854 C T exonic CDH1 . stopgain CDH1:NM_001317184:exon7:c.C1003T:p.R335X,CDH1:NM_004360:exon7:c.C1003T:p.R335X 16q22.1 . rs587780784 . . . . . . 0.000 D 1 A . . . . . . . 12.065 38 0.998 0.844 D . . . . 0.632 0 3.22 -0.058 0.935 0.998 1.000 13.393 Deleterious (FATHMM)
1502 16 68812264 G A Pathogenic CDH1 . . . . . . . . . . 16 68812264 68812264 G A splicing CDH1 NM_001317184:exon8:c.1137+1G>A,NM_004360:exon8:c.1137+1G>A . . 16q22.1 . . . . . . . . . . 1 D . . . . . . . 4.444 24.2 0.990 0.990 D . . . . 0.162 0 5.72 0.917 1.048 0.995 0.268 19.481 Deleterious (FATHMM)
1503 16 68815760 G A Pathogenic CDH1 . . . . . . . . . . 16 68815760 68815760 G A splicing CDH1 NM_001317184:exon9:c.1382+1G>A,NM_001317185:exon10:c.17+1G>A,NM_004360:exon10:c.1565+1G>A . . 16q22.1 . rs587780113 . . . . . . . . 1 D . . . . . . . 5.771 27.0 0.995 0.996 D . . . . 0.295 0 5.72 0.917 1.045 0.928 0.960 18.450 Deleterious (FATHMM)
1504 16 68828296 G T Pathogenic CDH1 . . . . . . . . . . 16 68828296 68828296 G T exonic CDH1 . stopgain CDH1:NM_001317184:exon13:c.G2104T:p.E702X,CDH1:NM_001317186:exon13:c.G322T:p.E108X,CDH1:NM_001317185:exon14:c.G739T:p.E247X,CDH1:NM_004360:exon14:c.G2287T:p.E763X 16q22.1 . rs587780787 . . . . . . 0.000 D 1 A . . . . . . . 15.666 52 0.997 0.988 D . . . . 0.672 0 5.35 0.917 0.953 0.994 0.990 19.030 Deleterious (FATHMM)
1505 16 70268356 G A Pathogenic AARS . . . . . . . . . . 16 70268356 70268356 G A exonic AARS . nonsynonymous SNV AARS:NM_001605:exon8:c.G986T:p.R329L 16q22.1 . . 0.0 D 1.0 D 0.999 D 0.000 D 1 D 4.65 H -3.23 D -6.9 D 0.978 8.071 35 0.999 0.993 D 1.098 D 0.948 D 0.719 0 5.66 0.871 0.935 0.998 0.995 17.294 Deleterious
1506 16 72014641 C T Pathogenic/Likely pathogenic DHODH . . . . . . . . . . 16 72014641 72014641 C T exonic DHODH . nonsynonymous SNV DHODH:NM_001361:exon3:c.C403T:p.R135C 16q22.2 0.0004 rs201230446 0.0 D 1.0 D 1.0 D 0.000 D 1 A 4.255 H -2.21 D -7.6 D 0.985 7.553 34 0.973 0.917 D 1.044 D 0.883 D 0.707 0 5.29 0.871 0.852 0.947 0.984 17.908 Deleterious
1507 16 81357003 G A Pathogenic GAN . . . . . . . . . . 16 81357003 81357003 G A splicing GAN NM_022041:exon4:c.851+1G>A . . 16q23.2 . rs747291494 . . . . . . . . 1 D . . . . . . . 4.299 24.0 0.993 0.998 D . . . . 0.099 0 5.82 0.917 1.048 0.983 0.636 20.101 Deleterious (FATHMM)
1508 16 88824853 C T Pathogenic GALNS . . . . . . . . . . 16 88824853 88824853 C T exonic GALNS . nonsynonymous SNV GALNS:NM_000512:exon11:c.C1156A:p.R386S 16q24.3 . . 0.012 D 1.0 D 1.0 D 0.000 D 1 D 1.295 L -2.5 D -4.22 D 0.912 6.217 28.8 0.996 0.932 D 0.385 D 0.732 D 0.713 0 4.68 0.917 0.953 0.873 0.495 17.591 Deleterious
1509 16 88840993 T A Pathogenic/Likely pathogenic GALNS . . . . . . . . . . 16 88840993 88840993 T A exonic GALNS . synonymous SNV GALNS:NM_000512:exon4:c.T421T:p.W141W 16q24.3 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
1510 16 88841077 A T Pathogenic GALNS . . . . . . . . . . 16 88841077 88841077 A T exonic GALNS . synonymous SNV GALNS:NM_000512:exon4:c.A337A:p.I113I 16q24.3 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
1511 16 89154148 C T Pathogenic ACSF3 . . . . . . . . . . 16 89154148 89154148 C T exonic ACSF3 . nonsynonymous SNV ACSF3:NM_001284316:exon9:c.C877T:p.R293W,ACSF3:NM_001127214:exon10:c.C1672T:p.R558W,ACSF3:NM_001243279:exon11:c.C1672T:p.R558W,ACSF3:NM_174917:exon11:c.C1672T:p.R558W 16q24.3 0.0035 rs141090143 0.0 D 1.0 D 0.999 D 0.000 D 0.993 D 3.87 H 0.22 T -5.76 D 0.848 5.987 27.8 0.998 0.382 N -0.032 T 0.400 T 0.635 0 1.37 0.868 -0.058 0.991 0.880 11.304 Tolerated
1512 16 89275092 G A Pathogenic ANKRD11 . . . . . . . . . . 16 89275092 89275092 G A splicing ANKRD11 NM_013275:exon10:c.7569+1C>T,NM_001256183:exon10:c.7569+1C>T,NM_001256182:exon11:c.7569+1C>T . . 16q24.3 . . . . . . . . . . 1 D . . . . . . . 6.024 27.9 0.995 0.984 D . . . . 0.099 0 5.16 0.871 0.935 0.988 0.918 18.611 Deleterious (FATHMM)
1513 16 89510539 T A Pathogenic SPG7 . . . . . . . . . . 16 89510539 89510539 T A exonic SPG7 . stopgain SPG7:NM_003119:exon2:c.T233A:p.L78X,SPG7:NM_199367:exon2:c.T233A:p.L78X 16q24.3 7.7e-05 rs121918358 . . . . . . 0.894 N 1 A . . . . . . . 4.296 24.0 0.905 0.128 N . . . . 0.707 0 0.04 0.991 1.058 0.988 0.417 6.847
1514 16 89531903 G A Pathogenic/Likely pathogenic SPG7 . . . . . . . . . . 16 89531903 89531903 G A splicing SPG7 NM_003119:exon8:c.988-1G>A,NM_199367:exon8:c.988-1G>A . . 16q24.3 . rs748309520 . . . . . . . . 1 D . . . . . . . 4.640 24.5 0.993 0.992 D . . . . 0.257 0 5.85 0.917 1.048 0.866 0.640 20.236 Deleterious (FATHMM)
1515 16 89531961 G A Pathogenic SPG7 . . . . . . . . . . 16 89531961 89531961 G A exonic SPG7 . nonsynonymous SNV SPG7:NM_003119:exon8:c.G1045A:p.G349S,SPG7:NM_199367:exon8:c.G1045A:p.G349S 16q24.3 0.0012 rs141659620 0.0 D 1.0 D 1.0 D 0.000 D 1 A 4.195 H -8.02 D -5.49 D 0.989 6.590 31 0.998 0.978 D 0.925 D 0.998 D 0.722 0 5.85 0.917 1.048 0.375 0.114 20.236 Deleterious
1516 16 89546737 C T Pathogenic/Likely pathogenic SPG7 . . . . . . . . . . 16 89546737 89546737 C T exonic SPG7 . nonsynonymous SNV SPG7:NM_003119:exon11:c.C1529T:p.A510V 16q24.3 0.0035 rs61755320 0.001 D 1.0 D 0.994 D 0.000 D 1 D 2.575 M -3.83 D -3.88 D 0.976 6.631 32 0.999 0.968 D 1.057 D 0.927 D 0.707 0 5.42 0.871 0.935 0.996 0.997 19.218 Deleterious
1517 16 89651586 C T Pathogenic CHMP1A . . . . . . . . . . 16 89651586 89651586 C T exonic CHMP1A . nonsynonymous SNV CHMP1A:NM_001083314:exon2:c.C68A:p.A23E,CHMP1A:NM_002768:exon3:c.C88A:p.Q30K 16q24.3 . . 1.0 T 0.001 B 0.004 B . . 1 D -1.585 N -0.48 T 1.1 N 0.716 1.595 13.82 0.623 0.994 D -0.856 T 0.091 T 0.707 0 4.81 0.917 0.953 0.999 0.988 18.237 Tolerated
1518 16 89746890 A G Pathogenic FANCA . . . . . . . . . . 16 89746890 89746890 A G exonic FANCA . synonymous SNV FANCA:NM_000135:exon34:c.A3349C:p.R1117R,FANCA:NM_001286167:exon34:c.A3349C:p.R1117R 16q24.3 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
1519 17 2670193 C T Pathogenic PAFAH1B1 . . . . . . . . . . 17 2670193 2670193 C T exonic PAFAH1B1 . stopgain PAFAH1B1:NM_000430:exon6:c.C430T:p.R144X 17p13.3 . rs587784267 . . . . . . 0.000 D 1 A . . . . . . . 11.904 38 0.998 0.969 D . . . . 0.707 0 4.91 0.871 0.848 0.998 1.000 14.567 Deleterious (FATHMM)
1520 17 2674205 C T Pathogenic PAFAH1B1 . . . . . . . . . . 17 2674205 2674205 C T exonic PAFAH1B1 . stopgain PAFAH1B1:NM_000430:exon8:c.C817T:p.R273X 17p13.3 . rs121434483 . . . . . . 0.000 D 1 A . . . . . . . 13.887 43 0.998 0.962 D . . . . 0.707 0 5.74 0.871 0.852 1.000 1.000 13.839 Deleterious (FATHMM)
1521 17 3494408 C A Pathogenic ASPA|SPATA22 . . . . . . . . . . 17 3494408 3494408 C A exonic ASPA . stopgain ASPA:NM_000049:exon5:c.C693A:p.Y231X,ASPA:NM_001128085:exon6:c.C693A:p.Y231X 17p13.2 . rs12948217 . . . . . . 0.000 D 1 D . . . . . . . 10.398 36 0.997 0.810 D . . . . 0.487 0 3.51 -0.328 -0.215 0.660 0.994 8.284 Deleterious (FATHMM)
1522 17 3499000 A C Pathogenic ASPA|SPATA22 . . . . . . . . . . 17 3499000 3499000 A C exonic ASPA . nonsynonymous SNV ASPA:NM_000049:exon6:c.A854C:p.E285A,ASPA:NM_001128085:exon7:c.A854C:p.E285A 17p13.2 0.0002 rs28940279 0.0 D 1.0 D 1.0 D 0.000 D 1 A 3.18 M -4.66 D -5.64 D 0.94 4.724 24.6 0.995 0.984 D 1.143 D 0.959 D 0.554 0 4.68 1.062 1.140 0.992 0.681 11.195 Deleterious
1523 17 6425781 G A Pathogenic AIPL1 . . . . . . . . . . 17 6425781 6425781 G A exonic AIPL1 . nonsynonymous SNV AIPL1:NM_001033054:exon5:c.G645T:p.W215C,AIPL1:NM_001033055:exon5:c.G654T:p.W218C,AIPL1:NM_001285399:exon6:c.G798T:p.W266C,AIPL1:NM_001285400:exon6:c.G768T:p.W256C,AIPL1:NM_001285401:exon6:c.G762T:p.W254C,AIPL1:NM_001285402:exon6:c.G717T:p.W239C,AIPL1:NM_014336:exon6:c.G834T:p.W278C 17p13.2 . . 0.015 D 1.0 D 1.0 D 0.000 D 1 D 2.075 M 0.26 T -11.64 D 0.758 6.236 28.8 0.990 0.988 D 0.607 D 0.760 D 0.428 0 5.14 0.871 0.935 0.990 0.952 16.071 Deleterious
1524 17 7221966 G A Pathogenic/Likely pathogenic ACADVL . . . . . . . . . . 17 7221966 7221966 G A exonic ACADVL . nonsynonymous SNV ACADVL:NM_001033859:exon7:c.G571A:p.A191T,ACADVL:NM_001270448:exon7:c.G409A:p.A137T,ACADVL:NM_000018:exon8:c.G637A:p.A213T,ACADVL:NM_001270447:exon9:c.G706A:p.A236T 17p13.1 . rs140629318 0.001 D 1.0 D 0.999 D 0.000 D 1 D 2.95 M -4.0 D -3.79 D 0.933 6.572 31 0.999 0.972 D 1.088 D 0.947 D 0.672 0 5.73 0.917 1.048 0.753 0.911 17.386 Deleterious
1525 17 7222272 T C Pathogenic ACADVL . . . . . . . . . . 17 7222272 7222272 T C exonic ACADVL . nonsynonymous SNV ACADVL:NM_001033859:exon8:c.T782C:p.V261A,ACADVL:NM_001270448:exon8:c.T620C:p.V207A,ACADVL:NM_000018:exon9:c.T848C:p.V283A,ACADVL:NM_001270447:exon10:c.T917C:p.V306A 17p13.1 0.0009 rs113994167 0.0 D 0.605 P 0.47 P 0.000 D 1.000 A 0.95 L -5.34 D -3.98 D 0.889 5.413 26.0 0.998 0.951 D 1.204 D 0.921 D 0.672 0 5.22 0.991 1.061 0.999 1.000 13.069 Deleterious
1526 17 7223151 C T Pathogenic ACADVL . . . . . . . . . . 17 7223151 7223151 C T exonic ACADVL . nonsynonymous SNV ACADVL:NM_001033859:exon10:c.C1030T:p.R344C,ACADVL:NM_001270448:exon10:c.C868T:p.R290C,ACADVL:NM_000018:exon11:c.C1096T:p.R366C,ACADVL:NM_001270447:exon12:c.C1165T:p.R389C 17p13.1 . rs771874163 0.0 D 1.0 D 1.0 D 0.000 D 1 D 4.88 H -5.06 D -7.73 D 0.988 7.472 34 0.999 0.880 D 0.994 D 0.987 D 0.672 0 5.62 0.871 0.932 0.997 1.000 17.142 Deleterious
1527 17 7223865 G A Pathogenic ACADVL . . . . . . . . . . 17 7223865 7223865 G A exonic ACADVL . nonsynonymous SNV ACADVL:NM_001033859:exon12:c.G1256A:p.G419D,ACADVL:NM_001270448:exon12:c.G1094A:p.G365D,ACADVL:NM_000018:exon13:c.G1322A:p.G441D,ACADVL:NM_001270447:exon14:c.G1391A:p.G464D 17p13.1 . rs2309689 0.0 D 1.0 D 0.995 D 0.000 D 1 A 4.53 H -5.53 D -6.53 D 0.997 6.314 29.2 0.949 0.967 D 1.004 D 0.987 D 0.672 0 5.77 0.917 1.048 1.000 1.000 17.535 Deleterious
1528 17 7224041 G A Pathogenic/Likely pathogenic ACADVL . . . . . . . . . . 17 7224041 7224041 G A exonic ACADVL . nonsynonymous SNV ACADVL:NM_001033859:exon13:c.G1340A:p.R447Q,ACADVL:NM_001270448:exon13:c.G1178A:p.R393Q,ACADVL:NM_000018:exon14:c.G1406A:p.R469Q,ACADVL:NM_001270447:exon15:c.G1475A:p.R492Q 17p13.1 . rs398123083 0.001 D 1.0 D 1.0 D 0.000 D 1 D 2.835 M -4.17 D -3.83 D 0.986 7.353 34 0.995 0.984 D 1.076 D 0.942 D 0.672 0 5.74 0.917 1.048 0.987 0.994 15.412 Deleterious
1529 17 7224636 G A Pathogenic/Likely pathogenic ACADVL . . . . . . . . . . 17 7224636 7224636 G A intronic ACADVL . . . 17p13.1 7.8e-05 rs113994171 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . probably Tolerated (Intron)
1530 17 7224966 C T Pathogenic/Likely pathogenic ACADVL . . . . . . . . . . 17 7224966 7224966 C T exonic ACADVL . nonsynonymous SNV ACADVL:NM_001033859:exon19:c.C1771T:p.R591W,ACADVL:NM_001270448:exon19:c.C1609T:p.R537W,ACADVL:NM_000018:exon20:c.C1837T:p.R613W,ACADVL:NM_001270447:exon21:c.C1906T:p.R636W 17p13.1 . rs118204014 0.0 D 1.0 D 1.0 D 0.000 D 1 A 2.99 M -1.39 T -7.39 D 0.947 7.594 34 0.974 0.826 D 0.603 D 0.729 D 0.672 0 5.74 0.871 0.935 0.826 0.989 17.412 Deleterious
1531 17 7669692 A G Pathogenic TP53 . . . . . . . . . . 17 7669692 7669692 A G splicing TP53 NM_000546:exon11:c.1101-2T>C,NM_001126112:exon11:c.1101-2T>C,NM_001126114:exon12:c.1234-2T>C,NM_001276697:exon7:c.624-2T>C,NM_001276696:exon12:c.1117-2T>C,NM_001276695:exon12:c.1044-2T>C,NM_001276761:exon11:c.984-2T>C,NM_001276760:exon11:c.984-2T>C,NM_001276699:exon8:c.684-2T>C,NM_001276698:exon8:c.757-2T>C,NM_001126118:exon10:c.984-2T>C,NM_001126117:exon8:c.765-2T>C,NM_001126116:exon8:c.838-2T>C,NM_001126115:exon7:c.705-2T>C,NM_001126113:exon12:c.1161-2T>C . . 17p13.1 . . . . . . . . . . 1 D . . . . . . . 4.523 24.3 0.992 0.907 D . . . . 0.295 0 5.31 0.991 1.058 0.985 0.891 11.571 Deleterious (FATHMM)
1532 17 7670685 C T Pathogenic TP53 . . . . . . . . . . 17 7670685 7670685 C T exonic TP53 . synonymous SNV TP53:NM_001126115:exon6:c.C628A:p.R210R,TP53:NM_001276697:exon6:c.C547A:p.R183R,TP53:NM_001126118:exon9:c.C907A:p.R303R,TP53:NM_000546:exon10:c.C1024A:p.R342R,TP53:NM_001126112:exon10:c.C1024A:p.R342R,TP53:NM_001276760:exon10:c.C907A:p.R303R,TP53:NM_001276761:exon10:c.C907A:p.R303R 17p13.1 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
1533 17 7670699 G A Pathogenic TP53 . . . . . . . . . . 17 7670699 7670699 G A exonic TP53 . nonsynonymous SNV TP53:NM_001126115:exon6:c.G614T:p.R205L,TP53:NM_001276697:exon6:c.G533T:p.R178L,TP53:NM_001126118:exon9:c.G893T:p.R298L,TP53:NM_000546:exon10:c.G1010T:p.R337L,TP53:NM_001126112:exon10:c.G1010T:p.R337L,TP53:NM_001276760:exon10:c.G893T:p.R298L,TP53:NM_001276761:exon10:c.G893T:p.R298L 17p13.1 . rs121912664 0.018 D 0.995 D 0.946 D 0.000 D 1 D 2.585 M -3.62 D -4.12 D 0.627 6.150 28.5 0.997 0.826 D 0.888 D 0.888 D 0.707 0 3.45 0.871 0.852 0.967 0.881 9.887 Deleterious
1534 17 7673704 C T Pathogenic TP53 . . . . . . . . . . 17 7673704 7673704 C T exonic TP53 . synonymous SNV TP53:NM_001126115:exon4:c.C520A:p.R174R,TP53:NM_001126116:exon4:c.C520A:p.R174R,TP53:NM_001126117:exon4:c.C520A:p.R174R,TP53:NM_001276697:exon4:c.C439A:p.R147R,TP53:NM_001276698:exon4:c.C439A:p.R147R,TP53:NM_001276699:exon4:c.C439A:p.R147R,TP53:NM_001126118:exon7:c.C799A:p.R267R,TP53:NM_000546:exon8:c.C916A:p.R306R,TP53:NM_001126112:exon8:c.C916A:p.R306R,TP53:NM_001126113:exon8:c.C916A:p.R306R,TP53:NM_001126114:exon8:c.C916A:p.R306R,TP53:NM_001276695:exon8:c.C799A:p.R267R,TP53:NM_001276696:exon8:c.C799A:p.R267R,TP53:NM_001276760:exon8:c.C799A:p.R267R,TP53:NM_001276761:exon8:c.C799A:p.R267R 17p13.1 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
1535 17 7673728 G T Pathogenic TP53 . . . . . . . . . . 17 7673728 7673728 G T exonic TP53 . nonsynonymous SNV TP53:NM_001126115:exon4:c.G496A:p.E166K,TP53:NM_001126116:exon4:c.G496A:p.E166K,TP53:NM_001126117:exon4:c.G496A:p.E166K,TP53:NM_001276697:exon4:c.G415A:p.E139K,TP53:NM_001276698:exon4:c.G415A:p.E139K,TP53:NM_001276699:exon4:c.G415A:p.E139K,TP53:NM_001126118:exon7:c.G775A:p.E259K,TP53:NM_000546:exon8:c.G892A:p.E298K,TP53:NM_001126112:exon8:c.G892A:p.E298K,TP53:NM_001126113:exon8:c.G892A:p.E298K,TP53:NM_001126114:exon8:c.G892A:p.E298K,TP53:NM_001276695:exon8:c.G775A:p.E259K,TP53:NM_001276696:exon8:c.G775A:p.E259K,TP53:NM_001276760:exon8:c.G775A:p.E259K,TP53:NM_001276761:exon8:c.G775A:p.E259K 17p13.1 . rs201744589 0.19 T 0.007 B 0.008 B 0.149 N 1 N 2.655 M -5.42 D -0.13 N 0.211 0.759 9.210 0.935 0.130 N 0.980 D 0.953 D 0.722 0 -4.03 -0.675 -0.324 0.001 0.000 5.949 Deleterious
1536 17 7673764 G A Pathogenic/Likely pathogenic TP53 . . . . . . . . . . 17 7673764 7673764 G A exonic TP53 . stopgain TP53:NM_001126115:exon4:c.G460T:p.E154X,TP53:NM_001126116:exon4:c.G460T:p.E154X,TP53:NM_001126117:exon4:c.G460T:p.E154X,TP53:NM_001276697:exon4:c.G379T:p.E127X,TP53:NM_001276698:exon4:c.G379T:p.E127X,TP53:NM_001276699:exon4:c.G379T:p.E127X,TP53:NM_001126118:exon7:c.G739T:p.E247X,TP53:NM_000546:exon8:c.G856T:p.E286X,TP53:NM_001126112:exon8:c.G856T:p.E286X,TP53:NM_001126113:exon8:c.G856T:p.E286X,TP53:NM_001126114:exon8:c.G856T:p.E286X,TP53:NM_001276695:exon8:c.G739T:p.E247X,TP53:NM_001276696:exon8:c.G739T:p.E247X,TP53:NM_001276760:exon8:c.G739T:p.E247X,TP53:NM_001276761:exon8:c.G739T:p.E247X 17p13.1 . . . . . . . . 0.000 D 1 A . . . . . . . 11.557 37 0.997 0.996 D . . . . 0.722 0 4.99 0.871 0.932 0.991 0.995 15.807 Deleterious (FATHMM)
1537 17 7673778 A T Pathogenic/Likely pathogenic TP53 . . . . . . . . . . 17 7673778 7673778 A T exonic TP53 . synonymous SNV TP53:NM_001126115:exon4:c.A446A:p.D149D,TP53:NM_001126116:exon4:c.A446A:p.D149D,TP53:NM_001126117:exon4:c.A446A:p.D149D,TP53:NM_001276697:exon4:c.A365A:p.D122D,TP53:NM_001276698:exon4:c.A365A:p.D122D,TP53:NM_001276699:exon4:c.A365A:p.D122D,TP53:NM_001126118:exon7:c.A725A:p.D242D,TP53:NM_000546:exon8:c.A842A:p.D281D,TP53:NM_001126112:exon8:c.A842A:p.D281D,TP53:NM_001126113:exon8:c.A842A:p.D281D,TP53:NM_001126114:exon8:c.A842A:p.D281D,TP53:NM_001276695:exon8:c.A725A:p.D242D,TP53:NM_001276696:exon8:c.A725A:p.D242D,TP53:NM_001276760:exon8:c.A725A:p.D242D,TP53:NM_001276761:exon8:c.A725A:p.D242D 17p13.1 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
1538 17 7673796 G A Pathogenic/Likely pathogenic TP53 . . . . . . . . . . 17 7673796 7673796 G A exonic TP53 . nonsynonymous SNV TP53:NM_001126115:exon4:c.G428T:p.C143F,TP53:NM_001126116:exon4:c.G428T:p.C143F,TP53:NM_001126117:exon4:c.G428T:p.C143F,TP53:NM_001276697:exon4:c.G347T:p.C116F,TP53:NM_001276698:exon4:c.G347T:p.C116F,TP53:NM_001276699:exon4:c.G347T:p.C116F,TP53:NM_001126118:exon7:c.G707T:p.C236F,TP53:NM_000546:exon8:c.G824T:p.C275F,TP53:NM_001126112:exon8:c.G824T:p.C275F,TP53:NM_001126113:exon8:c.G824T:p.C275F,TP53:NM_001126114:exon8:c.G824T:p.C275F,TP53:NM_001276695:exon8:c.G707T:p.C236F,TP53:NM_001276696:exon8:c.G707T:p.C236F,TP53:NM_001276760:exon8:c.G707T:p.C236F,TP53:NM_001276761:exon8:c.G707T:p.C236F 17p13.1 . . 0.0 D 1.0 D 1.0 D 0.000 D 1 D 3.34 M -7.39 D -9.51 D 0.995 7.423 34 0.994 0.997 D 0.923 D 0.994 D 0.722 0 4.92 0.871 0.932 0.998 0.997 15.662 Deleterious
1539 17 7673802 G A Pathogenic TP53 . . . . . . . . . . 17 7673802 7673802 G A exonic TP53 . nonsynonymous SNV TP53:NM_001126115:exon4:c.G422T:p.R141L,TP53:NM_001126116:exon4:c.G422T:p.R141L,TP53:NM_001126117:exon4:c.G422T:p.R141L,TP53:NM_001276697:exon4:c.G341T:p.R114L,TP53:NM_001276698:exon4:c.G341T:p.R114L,TP53:NM_001276699:exon4:c.G341T:p.R114L,TP53:NM_001126118:exon7:c.G701T:p.R234L,TP53:NM_000546:exon8:c.G818T:p.R273L,TP53:NM_001126112:exon8:c.G818T:p.R273L,TP53:NM_001126113:exon8:c.G818T:p.R273L,TP53:NM_001126114:exon8:c.G818T:p.R273L,TP53:NM_001276695:exon8:c.G701T:p.R234L,TP53:NM_001276696:exon8:c.G701T:p.R234L,TP53:NM_001276760:exon8:c.G701T:p.R234L,TP53:NM_001276761:exon8:c.G701T:p.R234L 17p13.1 . rs28934576 0.0 D 1.0 D 0.99 D 0.000 D 1 D 3.145 M -7.3 D -6.04 D 0.997 7.449 34 0.998 0.996 D 0.928 D 0.994 D 0.722 0 4.92 0.871 0.932 0.975 0.792 15.662 Deleterious
1540 17 7674220 G A Pathogenic/Likely pathogenic TP53 . . . . . . . . . . 17 7674220 7674220 G A exonic TP53 . nonsynonymous SNV TP53:NM_001126115:exon3:c.G347T:p.R116L,TP53:NM_001126116:exon3:c.G347T:p.R116L,TP53:NM_001126117:exon3:c.G347T:p.R116L,TP53:NM_001276697:exon3:c.G266T:p.R89L,TP53:NM_001276698:exon3:c.G266T:p.R89L,TP53:NM_001276699:exon3:c.G266T:p.R89L,TP53:NM_001126118:exon6:c.G626T:p.R209L,TP53:NM_000546:exon7:c.G743T:p.R248L,TP53:NM_001126112:exon7:c.G743T:p.R248L,TP53:NM_001126113:exon7:c.G743T:p.R248L,TP53:NM_001126114:exon7:c.G743T:p.R248L,TP53:NM_001276695:exon7:c.G626T:p.R209L,TP53:NM_001276696:exon7:c.G626T:p.R209L,TP53:NM_001276760:exon7:c.G626T:p.R209L,TP53:NM_001276761:exon7:c.G626T:p.R209L 17p13.1 . . 0.0 D 1.0 D 0.999 D 0.000 D 1.000 D 3.315 M -7.3 D -6.11 D 0.936 7.456 34 0.998 0.987 D 0.968 D 0.994 D 0.722 0 3.65 0.033 0.848 0.928 0.944 10.669 Deleterious
1541 17 7674221 C T Pathogenic/Likely pathogenic TP53 . . . . . . . . . . 17 7674221 7674221 C T exonic TP53 . synonymous SNV TP53:NM_001126115:exon3:c.C346A:p.R116R,TP53:NM_001126116:exon3:c.C346A:p.R116R,TP53:NM_001126117:exon3:c.C346A:p.R116R,TP53:NM_001276697:exon3:c.C265A:p.R89R,TP53:NM_001276698:exon3:c.C265A:p.R89R,TP53:NM_001276699:exon3:c.C265A:p.R89R,TP53:NM_001126118:exon6:c.C625A:p.R209R,TP53:NM_000546:exon7:c.C742A:p.R248R,TP53:NM_001126112:exon7:c.C742A:p.R248R,TP53:NM_001126113:exon7:c.C742A:p.R248R,TP53:NM_001126114:exon7:c.C742A:p.R248R,TP53:NM_001276695:exon7:c.C625A:p.R209R,TP53:NM_001276696:exon7:c.C625A:p.R209R,TP53:NM_001276760:exon7:c.C625A:p.R209R,TP53:NM_001276761:exon7:c.C625A:p.R209R 17p13.1 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
1542 17 7674227 A G Pathogenic/Likely pathogenic TP53 . . . . . . . . . . 17 7674227 7674227 A G exonic TP53 . nonsynonymous SNV TP53:NM_001126115:exon3:c.A340C:p.M114L,TP53:NM_001126116:exon3:c.A340C:p.M114L,TP53:NM_001126117:exon3:c.A340C:p.M114L,TP53:NM_001276697:exon3:c.A259C:p.M87L,TP53:NM_001276698:exon3:c.A259C:p.M87L,TP53:NM_001276699:exon3:c.A259C:p.M87L,TP53:NM_001126118:exon6:c.A619C:p.M207L,TP53:NM_000546:exon7:c.A736C:p.M246L,TP53:NM_001126112:exon7:c.A736C:p.M246L,TP53:NM_001126113:exon7:c.A736C:p.M246L,TP53:NM_001126114:exon7:c.A736C:p.M246L,TP53:NM_001276695:exon7:c.A619C:p.M207L,TP53:NM_001276696:exon7:c.A619C:p.M207L,TP53:NM_001276760:exon7:c.A619C:p.M207L,TP53:NM_001276761:exon7:c.A619C:p.M207L 17p13.1 . rs483352695 0.098 T 0.995 D 0.991 D 0.000 D 1.000 D 1.72 L -6.69 D -2.61 D 0.748 5.855 27.3 0.979 0.990 D 1.075 D 0.982 D 0.722 0 3.54 0.991 0.961 1.000 0.996 8.419 Deleterious
1543 17 7674229 G A Pathogenic TP53 . . . . . . . . . . 17 7674229 7674229 G A exonic TP53 . nonsynonymous SNV TP53:NM_001126115:exon3:c.G338T:p.G113V,TP53:NM_001126116:exon3:c.G338T:p.G113V,TP53:NM_001126117:exon3:c.G338T:p.G113V,TP53:NM_001276697:exon3:c.G257T:p.G86V,TP53:NM_001276698:exon3:c.G257T:p.G86V,TP53:NM_001276699:exon3:c.G257T:p.G86V,TP53:NM_001126118:exon6:c.G617T:p.G206V,TP53:NM_000546:exon7:c.G734T:p.G245V,TP53:NM_001126112:exon7:c.G734T:p.G245V,TP53:NM_001126113:exon7:c.G734T:p.G245V,TP53:NM_001126114:exon7:c.G734T:p.G245V,TP53:NM_001276695:exon7:c.G617T:p.G206V,TP53:NM_001276696:exon7:c.G617T:p.G206V,TP53:NM_001276760:exon7:c.G617T:p.G206V,TP53:NM_001276761:exon7:c.G617T:p.G206V 17p13.1 . rs121912656 0.0 D 1.0 D 1.0 D 0.000 D 1 D 3.255 M -7.62 D -7.82 D 0.992 6.984 33 0.998 0.993 D 0.903 D 0.995 D 0.722 0 4.62 0.871 0.848 0.999 0.987 15.362 Deleterious
1544 17 7674230 G A Pathogenic/Likely pathogenic TP53 . . . . . . . . . . 17 7674230 7674230 G A exonic TP53 . nonsynonymous SNV TP53:NM_001126115:exon3:c.G337T:p.G113C,TP53:NM_001126116:exon3:c.G337T:p.G113C,TP53:NM_001126117:exon3:c.G337T:p.G113C,TP53:NM_001276697:exon3:c.G256T:p.G86C,TP53:NM_001276698:exon3:c.G256T:p.G86C,TP53:NM_001276699:exon3:c.G256T:p.G86C,TP53:NM_001126118:exon6:c.G616T:p.G206C,TP53:NM_000546:exon7:c.G733T:p.G245C,TP53:NM_001126112:exon7:c.G733T:p.G245C,TP53:NM_001126113:exon7:c.G733T:p.G245C,TP53:NM_001126114:exon7:c.G733T:p.G245C,TP53:NM_001276695:exon7:c.G616T:p.G206C,TP53:NM_001276696:exon7:c.G616T:p.G206C,TP53:NM_001276760:exon7:c.G616T:p.G206C,TP53:NM_001276761:exon7:c.G616T:p.G206C 17p13.1 . rs28934575 0.0 D 1.0 D 1.0 D 0.000 D 1 D 3.255 M -7.65 D -7.85 D 0.991 7.765 35 0.997 0.993 D 0.903 D 0.995 D 0.722 0 4.62 0.871 0.848 0.998 0.973 15.362 Deleterious
1545 17 7674238 G A Pathogenic TP53 . . . . . . . . . . 17 7674238 7674238 G A exonic TP53 . nonsynonymous SNV TP53:NM_001126115:exon3:c.G329T:p.C110F,TP53:NM_001126116:exon3:c.G329T:p.C110F,TP53:NM_001126117:exon3:c.G329T:p.C110F,TP53:NM_001276697:exon3:c.G248T:p.C83F,TP53:NM_001276698:exon3:c.G248T:p.C83F,TP53:NM_001276699:exon3:c.G248T:p.C83F,TP53:NM_001126118:exon6:c.G608T:p.C203F,TP53:NM_000546:exon7:c.G725T:p.C242F,TP53:NM_001126112:exon7:c.G725T:p.C242F,TP53:NM_001126113:exon7:c.G725T:p.C242F,TP53:NM_001126114:exon7:c.G725T:p.C242F,TP53:NM_001276695:exon7:c.G608T:p.C203F,TP53:NM_001276696:exon7:c.G608T:p.C203F,TP53:NM_001276760:exon7:c.G608T:p.C203F,TP53:NM_001276761:exon7:c.G608T:p.C203F 17p13.1 . . 0.0 D 1.0 D 1.0 D 0.000 D 1 D 3.345 M -7.99 D -9.51 D 0.989 7.089 33 0.993 0.993 D 0.877 D 0.997 D 0.722 0 4.62 0.871 0.848 1.000 0.998 15.362 Deleterious
1546 17 7674262 A G Pathogenic/Likely pathogenic TP53 . . . . . . . . . . 17 7674262 7674262 A G exonic TP53 . nonsynonymous SNV TP53:NM_001126115:exon3:c.A305C:p.Y102S,TP53:NM_001126116:exon3:c.A305C:p.Y102S,TP53:NM_001126117:exon3:c.A305C:p.Y102S,TP53:NM_001276697:exon3:c.A224C:p.Y75S,TP53:NM_001276698:exon3:c.A224C:p.Y75S,TP53:NM_001276699:exon3:c.A224C:p.Y75S,TP53:NM_001126118:exon6:c.A584C:p.Y195S,TP53:NM_000546:exon7:c.A701C:p.Y234S,TP53:NM_001126112:exon7:c.A701C:p.Y234S,TP53:NM_001126113:exon7:c.A701C:p.Y234S,TP53:NM_001126114:exon7:c.A701C:p.Y234S,TP53:NM_001276695:exon7:c.A584C:p.Y195S,TP53:NM_001276696:exon7:c.A584C:p.Y195S,TP53:NM_001276760:exon7:c.A584C:p.Y195S,TP53:NM_001276761:exon7:c.A584C:p.Y195S 17p13.1 . . 0.0 D 1.0 D 1.0 D 0.001 D 1.000 D 2.93 M -6.94 D -6.11 D 0.841 5.686 26.8 0.989 0.952 D 1.038 D 0.991 D 0.722 0 3.49 0.991 0.961 1.000 1.000 9.020 Deleterious
1547 17 7674872 A G Pathogenic/Likely pathogenic TP53 . . . . . . . . . . 17 7674872 7674872 A G exonic TP53 . nonsynonymous SNV TP53:NM_001126115:exon2:c.A263C:p.Y88S,TP53:NM_001126116:exon2:c.A263C:p.Y88S,TP53:NM_001126117:exon2:c.A263C:p.Y88S,TP53:NM_001276697:exon2:c.A182C:p.Y61S,TP53:NM_001276698:exon2:c.A182C:p.Y61S,TP53:NM_001276699:exon2:c.A182C:p.Y61S,TP53:NM_001126118:exon5:c.A542C:p.Y181S,TP53:NM_000546:exon6:c.A659C:p.Y220S,TP53:NM_001126112:exon6:c.A659C:p.Y220S,TP53:NM_001126113:exon6:c.A659C:p.Y220S,TP53:NM_001126114:exon6:c.A659C:p.Y220S,TP53:NM_001276695:exon6:c.A542C:p.Y181S,TP53:NM_001276696:exon6:c.A542C:p.Y181S,TP53:NM_001276760:exon6:c.A542C:p.Y181S,TP53:NM_001276761:exon6:c.A542C:p.Y181S 17p13.1 . rs121912666 0.001 D 1.0 D 1.0 D 0.000 D 1 A 3.02 M -7.03 D -8.08 D 0.962 6.859 33 0.990 0.992 D 0.954 D 0.992 D 0.732 0 5.28 0.015 0.964 0.254 0.999 13.475 Deleterious
1548 17 7674893 G A Pathogenic TP53 . . . . . . . . . . 17 7674893 7674893 G A exonic TP53 . nonsynonymous SNV TP53:NM_001126115:exon2:c.G242T:p.R81L,TP53:NM_001126116:exon2:c.G242T:p.R81L,TP53:NM_001126117:exon2:c.G242T:p.R81L,TP53:NM_001276697:exon2:c.G161T:p.R54L,TP53:NM_001276698:exon2:c.G161T:p.R54L,TP53:NM_001276699:exon2:c.G161T:p.R54L,TP53:NM_001126118:exon5:c.G521T:p.R174L,TP53:NM_000546:exon6:c.G638T:p.R213L,TP53:NM_001126112:exon6:c.G638T:p.R213L,TP53:NM_001126113:exon6:c.G638T:p.R213L,TP53:NM_001126114:exon6:c.G638T:p.R213L,TP53:NM_001276695:exon6:c.G521T:p.R174L,TP53:NM_001276696:exon6:c.G521T:p.R174L,TP53:NM_001276760:exon6:c.G521T:p.R174L,TP53:NM_001276761:exon6:c.G521T:p.R174L 17p13.1 . . 0.0 D 1.0 D 1.0 D 0.000 D 1.000 D 3.315 M -7.3 D -6.26 D 0.92 7.379 34 0.998 0.994 D 0.949 D 0.994 D 0.722 0 4.32 0.871 0.852 0.117 0.999 11.781 Deleterious
1549 17 7674894 C T Pathogenic TP53 . . . . . . . . . . 17 7674894 7674894 C T exonic TP53 . synonymous SNV TP53:NM_001126115:exon2:c.C241A:p.R81R,TP53:NM_001126116:exon2:c.C241A:p.R81R,TP53:NM_001126117:exon2:c.C241A:p.R81R,TP53:NM_001276697:exon2:c.C160A:p.R54R,TP53:NM_001276698:exon2:c.C160A:p.R54R,TP53:NM_001276699:exon2:c.C160A:p.R54R,TP53:NM_001126118:exon5:c.C520A:p.R174R,TP53:NM_000546:exon6:c.C637A:p.R213R,TP53:NM_001126112:exon6:c.C637A:p.R213R,TP53:NM_001126113:exon6:c.C637A:p.R213R,TP53:NM_001126114:exon6:c.C637A:p.R213R,TP53:NM_001276695:exon6:c.C520A:p.R174R,TP53:NM_001276696:exon6:c.C520A:p.R174R,TP53:NM_001276760:exon6:c.C520A:p.R174R,TP53:NM_001276761:exon6:c.C520A:p.R174R 17p13.1 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
1550 17 7674945 C T Pathogenic TP53 . . . . . . . . . . 17 7674945 7674945 C T exonic TP53 . synonymous SNV TP53:NM_001126115:exon2:c.C190A:p.R64R,TP53:NM_001126116:exon2:c.C190A:p.R64R,TP53:NM_001126117:exon2:c.C190A:p.R64R,TP53:NM_001276697:exon2:c.C109A:p.R37R,TP53:NM_001276698:exon2:c.C109A:p.R37R,TP53:NM_001276699:exon2:c.C109A:p.R37R,TP53:NM_001126118:exon5:c.C469A:p.R157R,TP53:NM_000546:exon6:c.C586A:p.R196R,TP53:NM_001126112:exon6:c.C586A:p.R196R,TP53:NM_001126113:exon6:c.C586A:p.R196R,TP53:NM_001126114:exon6:c.C586A:p.R196R,TP53:NM_001276695:exon6:c.C469A:p.R157R,TP53:NM_001276696:exon6:c.C469A:p.R157R,TP53:NM_001276760:exon6:c.C469A:p.R157R,TP53:NM_001276761:exon6:c.C469A:p.R157R 17p13.1 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
1551 17 7675070 G A Pathogenic/Likely pathogenic TP53 . . . . . . . . . . 17 7675070 7675070 G A exonic TP53 . nonsynonymous SNV TP53:NM_001126115:exon1:c.G146T:p.R49L,TP53:NM_001126116:exon1:c.G146T:p.R49L,TP53:NM_001126117:exon1:c.G146T:p.R49L,TP53:NM_001276697:exon1:c.G65T:p.R22L,TP53:NM_001276698:exon1:c.G65T:p.R22L,TP53:NM_001276699:exon1:c.G65T:p.R22L,TP53:NM_001126118:exon4:c.G425T:p.R142L,TP53:NM_000546:exon5:c.G542T:p.R181L,TP53:NM_001126112:exon5:c.G542T:p.R181L,TP53:NM_001126113:exon5:c.G542T:p.R181L,TP53:NM_001126114:exon5:c.G542T:p.R181L,TP53:NM_001276695:exon5:c.G425T:p.R142L,TP53:NM_001276696:exon5:c.G425T:p.R142L,TP53:NM_001276760:exon5:c.G425T:p.R142L,TP53:NM_001276761:exon5:c.G425T:p.R142L 17p13.1 . rs397514495 0.241 T 0.973 D 0.859 P 0.000 D 1.000 D 1.515 L -6.65 D -0.4 N 0.741 6.205 28.7 0.996 0.870 D 1.046 D 0.980 D 0.722 0 4.28 0.033 0.935 0.623 0.888 13.409 Deleterious
1552 17 7675088 G T Pathogenic/Likely pathogenic TP53 . . . . . . . . . . 17 7675088 7675088 G T exonic TP53 . nonsynonymous SNV TP53:NM_001126115:exon1:c.G128A:p.R43H,TP53:NM_001126116:exon1:c.G128A:p.R43H,TP53:NM_001126117:exon1:c.G128A:p.R43H,TP53:NM_001276697:exon1:c.G47A:p.R16H,TP53:NM_001276698:exon1:c.G47A:p.R16H,TP53:NM_001276699:exon1:c.G47A:p.R16H,TP53:NM_001126118:exon4:c.G407A:p.R136H,TP53:NM_000546:exon5:c.G524A:p.R175H,TP53:NM_001126112:exon5:c.G524A:p.R175H,TP53:NM_001126113:exon5:c.G524A:p.R175H,TP53:NM_001126114:exon5:c.G524A:p.R175H,TP53:NM_001276695:exon5:c.G407A:p.R136H,TP53:NM_001276696:exon5:c.G407A:p.R136H,TP53:NM_001276760:exon5:c.G407A:p.R136H,TP53:NM_001276761:exon5:c.G407A:p.R136H 17p13.1 . rs28934578 0.0 D 1.0 D 0.999 D 0.000 D 1 A 3.345 M -7.55 D -4.6 D 0.975 4.992 25.1 0.999 0.989 D 0.920 D 0.996 D 0.722 0 5.41 0.033 0.852 0.977 0.868 17.077 Deleterious
1553 17 7675088 G A Pathogenic TP53 . . . . . . . . . . 17 7675088 7675088 G A exonic TP53 . nonsynonymous SNV TP53:NM_001126115:exon1:c.G128T:p.R43L,TP53:NM_001126116:exon1:c.G128T:p.R43L,TP53:NM_001126117:exon1:c.G128T:p.R43L,TP53:NM_001276697:exon1:c.G47T:p.R16L,TP53:NM_001276698:exon1:c.G47T:p.R16L,TP53:NM_001276699:exon1:c.G47T:p.R16L,TP53:NM_001126118:exon4:c.G407T:p.R136L,TP53:NM_000546:exon5:c.G524T:p.R175L,TP53:NM_001126112:exon5:c.G524T:p.R175L,TP53:NM_001126113:exon5:c.G524T:p.R175L,TP53:NM_001126114:exon5:c.G524T:p.R175L,TP53:NM_001276695:exon5:c.G407T:p.R136L,TP53:NM_001276696:exon5:c.G407T:p.R136L,TP53:NM_001276760:exon5:c.G407T:p.R136L,TP53:NM_001276761:exon5:c.G407T:p.R136L 17p13.1 . rs28934578 0.0 D 1.0 D 1.0 D 0.000 D 1 D 3.345 M -7.54 D -6.44 D 0.994 8.108 35 0.999 0.992 D 0.920 D 0.996 D 0.722 0 5.41 0.033 0.852 0.977 0.868 17.077 Deleterious
1554 17 7675095 G A Pathogenic/Likely pathogenic TP53 . . . . . . . . . . 17 7675095 7675095 G A exonic TP53 . nonsynonymous SNV TP53:NM_001126115:exon1:c.G121T:p.V41L,TP53:NM_001126116:exon1:c.G121T:p.V41L,TP53:NM_001126117:exon1:c.G121T:p.V41L,TP53:NM_001276697:exon1:c.G40T:p.V14L,TP53:NM_001276698:exon1:c.G40T:p.V14L,TP53:NM_001276699:exon1:c.G40T:p.V14L,TP53:NM_001126118:exon4:c.G400T:p.V134L,TP53:NM_000546:exon5:c.G517T:p.V173L,TP53:NM_001126112:exon5:c.G517T:p.V173L,TP53:NM_001126113:exon5:c.G517T:p.V173L,TP53:NM_001126114:exon5:c.G517T:p.V173L,TP53:NM_001276695:exon5:c.G400T:p.V134L,TP53:NM_001276696:exon5:c.G400T:p.V134L,TP53:NM_001276760:exon5:c.G400T:p.V134L,TP53:NM_001276761:exon5:c.G400T:p.V134L 17p13.1 . . 0.0 D 1.0 D 0.999 D 0.000 D 1 D 3.31 M -7.13 D -2.76 D 0.846 6.289 29.1 0.997 0.995 D 0.960 D 0.994 D 0.722 0 5.59 0.871 0.935 0.935 0.188 17.478 Deleterious
1555 17 7675119 C T Pathogenic TP53 . . . . . . . . . . 17 7675119 7675119 C T exonic TP53 . nonsynonymous SNV TP53:NM_001126115:exon1:c.C97A:p.Q33K,TP53:NM_001126116:exon1:c.C97A:p.Q33K,TP53:NM_001126117:exon1:c.C97A:p.Q33K,TP53:NM_001276697:exon1:c.C16A:p.Q6K,TP53:NM_001276698:exon1:c.C16A:p.Q6K,TP53:NM_001276699:exon1:c.C16A:p.Q6K,TP53:NM_001126118:exon4:c.C376A:p.Q126K,TP53:NM_000546:exon5:c.C493A:p.Q165K,TP53:NM_001126112:exon5:c.C493A:p.Q165K,TP53:NM_001126113:exon5:c.C493A:p.Q165K,TP53:NM_001126114:exon5:c.C493A:p.Q165K,TP53:NM_001276695:exon5:c.C376A:p.Q126K,TP53:NM_001276696:exon5:c.C376A:p.Q126K,TP53:NM_001276760:exon5:c.C376A:p.Q126K,TP53:NM_001276761:exon5:c.C376A:p.Q126K 17p13.1 . . 1.0 T 0.0 B 0.001 B 0.000 N 0.926 D -2.085 N -6.24 D 3.35 N 0.397 -0.055 2.091 0.216 0.532 D 0.559 D 0.784 D 0.722 0 4.52 0.038 -0.087 0.992 0.139 10.836 Deleterious
1556 17 7675139 G A Pathogenic/Likely pathogenic TP53 . . . . . . . . . . 17 7675139 7675139 G A exonic TP53 . nonsynonymous SNV TP53:NM_001126115:exon1:c.G77T:p.R26L,TP53:NM_001126116:exon1:c.G77T:p.R26L,TP53:NM_001126117:exon1:c.G77T:p.R26L,TP53:NM_001126118:exon4:c.G356T:p.R119L,TP53:NM_000546:exon5:c.G473T:p.R158L,TP53:NM_001126112:exon5:c.G473T:p.R158L,TP53:NM_001126113:exon5:c.G473T:p.R158L,TP53:NM_001126114:exon5:c.G473T:p.R158L,TP53:NM_001276695:exon5:c.G356T:p.R119L,TP53:NM_001276696:exon5:c.G356T:p.R119L,TP53:NM_001276760:exon5:c.G356T:p.R119L,TP53:NM_001276761:exon5:c.G356T:p.R119L 17p13.1 . . 0.0 D 1.0 D 1.0 D 0.000 D 1 D 3.265 M -7.3 D -6.36 D 0.956 6.064 28.1 0.997 0.993 D 0.937 D 0.994 D 0.722 0 4.63 0.871 0.040 0.722 0.015 12.649 Deleterious
1557 17 7675157 C T Pathogenic TP53 . . . . . . . . . . 17 7675157 7675157 C T exonic TP53 . nonsynonymous SNV TP53:NM_001126115:exon1:c.C59A:p.P20Q,TP53:NM_001126116:exon1:c.C59A:p.P20Q,TP53:NM_001126117:exon1:c.C59A:p.P20Q,TP53:NM_001126118:exon4:c.C338A:p.P113Q,TP53:NM_000546:exon5:c.C455A:p.P152Q,TP53:NM_001126112:exon5:c.C455A:p.P152Q,TP53:NM_001126113:exon5:c.C455A:p.P152Q,TP53:NM_001126114:exon5:c.C455A:p.P152Q,TP53:NM_001276695:exon5:c.C338A:p.P113Q,TP53:NM_001276696:exon5:c.C338A:p.P113Q,TP53:NM_001276760:exon5:c.C338A:p.P113Q,TP53:NM_001276761:exon5:c.C338A:p.P113Q 17p13.1 . . 0.0 D 1.0 D 0.999 D 0.000 D 1 D 2.69 M -7.51 D -7.18 D 0.77 5.745 26.9 0.990 0.994 D 0.932 D 0.995 D 0.722 0 5.59 0.917 1.048 0.019 0.034 17.478 Deleterious
1558 17 7675161 C T Pathogenic/Likely pathogenic TP53 . . . . . . . . . . 17 7675161 7675161 C T exonic TP53 . nonsynonymous SNV TP53:NM_001126115:exon1:c.C55A:p.P19T,TP53:NM_001126116:exon1:c.C55A:p.P19T,TP53:NM_001126117:exon1:c.C55A:p.P19T,TP53:NM_001126118:exon4:c.C334A:p.P112T,TP53:NM_000546:exon5:c.C451A:p.P151T,TP53:NM_001126112:exon5:c.C451A:p.P151T,TP53:NM_001126113:exon5:c.C451A:p.P151T,TP53:NM_001126114:exon5:c.C451A:p.P151T,TP53:NM_001276695:exon5:c.C334A:p.P112T,TP53:NM_001276696:exon5:c.C334A:p.P112T,TP53:NM_001276760:exon5:c.C334A:p.P112T,TP53:NM_001276761:exon5:c.C334A:p.P112T 17p13.1 . rs28934874 0.002 D 1.0 D 1.0 D 0.000 D 1.000 D 2.855 M -7.49 D -6.76 D 0.907 4.957 25.0 0.997 0.992 D 0.931 D 0.995 D 0.722 0 5.59 0.917 1.048 0.044 0.036 17.478 Deleterious
1559 17 7676096 G A Pathogenic TP53 . . . . . . . . . . 17 7676096 7676096 G A exonic TP53 . nonsynonymous SNV TP53:NM_001126118:exon3:c.G156T:p.W52C,TP53:NM_000546:exon4:c.G273T:p.W91C,TP53:NM_001126112:exon4:c.G273T:p.W91C,TP53:NM_001126113:exon4:c.G273T:p.W91C,TP53:NM_001126114:exon4:c.G273T:p.W91C,TP53:NM_001276695:exon4:c.G156T:p.W52C,TP53:NM_001276696:exon4:c.G156T:p.W52C,TP53:NM_001276760:exon4:c.G156T:p.W52C,TP53:NM_001276761:exon4:c.G156T:p.W52C 17p13.1 . . 0.075 T 1.0 D 0.987 D 0.058 N 1.000 D 0.805 L -2.11 D -0.1 N 0.647 3.745 23.3 0.993 0.890 D 0.973 D 0.949 D 0.722 0 4.62 0.598 0.935 0.501 0.954 8.848 Deleterious
1560 17 8075687 A G Pathogenic ALOX12B . . . . . . . . . . 17 8075687 8075687 A G exonic ALOX12B . nonsynonymous SNV ALOX12B:NM_001139:exon12:c.A1562C:p.Y521S 17p13.1 . . 0.025 D 1.0 D 1.0 D 0.000 D 1.000 D 3.715 H -4.11 D -8.5 D 0.931 6.142 28.4 0.992 0.984 D 1.088 D 0.951 D 0.447 0 4.44 0.991 1.061 0.953 0.954 12.660 Deleterious
1561 17 15239545 T C Pathogenic/Likely pathogenic PMP22 . . . . . . . . . . 17 15239545 15239545 T C exonic PMP22 . nonsynonymous SNV PMP22:NM_153322:exon3:c.T245G:p.L82R,PMP22:NM_000304:exon4:c.T245G:p.L82R,PMP22:NM_001281455:exon4:c.T245G:p.L82R,PMP22:NM_001281456:exon4:c.T245G:p.L82R,PMP22:NM_153321:exon4:c.T245G:p.L82R 17p12 . . 0.008 D 0.996 D 0.897 P 0.004 N 1 D 2.28 M -2.82 D -4.13 D 0.853 5.435 26.1 0.943 0.971 D 0.726 D 0.805 D 0.707 0 4.52 1.062 0.203 1.000 0.997 12.792 Deleterious
1562 17 16316686 T C Pathogenic PIGL . . . . . . . . . . 17 16316686 16316686 T C exonic PIGL . nonsynonymous SNV PIGL:NM_004278:exon5:c.T500C:p.L167P 17p11.2 0.0006 rs145303331 0.001 D 1.0 D 0.997 D 0.000 D 1 D 3.125 M -1.13 T -5.64 D 0.99 5.328 25.8 0.999 0.966 D 0.402 D 0.662 D 0.732 0 4.86 0.991 1.061 0.850 0.992 12.716 Deleterious
1563 17 17214990 G A Pathogenic FLCN . . . . . . . . . . 17 17214990 17214990 G A exonic FLCN . nonsynonymous SNV FLCN:NM_144997:exon13:c.G1533T:p.W511C 17p11.2 . . 0.0 D 1.0 D 0.996 D 0.000 D 1 D 0.975 L -4.62 D -9.8 D 0.971 7.408 34 0.992 0.990 D 1.074 D 0.921 D 0.707 0 4.79 0.871 0.935 1.000 1.000 14.745 Deleterious
1564 17 17215092 A G Pathogenic/Likely pathogenic FLCN . . . . . . . . . . 17 17215092 17215092 A G splicing FLCN NM_144997:exon13:c.1433-2T>C . . 17p11.2 . . . . . . . . . . 1 D . . . . . . . 3.604 23.2 0.977 0.962 D . . . . 0.099 0 5.21 0.991 1.061 0.707 0.060 15.374 Deleterious (FATHMM)
1565 17 17215184 G A Pathogenic/Likely pathogenic FLCN . . . . . . . . . . 17 17215184 17215184 G A splicing FLCN NM_144997:exon12:c.1432+1C>T . . 17p11.2 . . . . . . . . . . 1 D . . . . . . . 5.897 27.5 0.996 0.984 D . . . . 0.257 0 5.03 0.871 0.852 0.911 0.988 18.717 Deleterious (FATHMM)
1566 17 17215188 C T Pathogenic FLCN . . . . . . . . . . 17 17215188 17215188 C T exonic FLCN . synonymous SNV FLCN:NM_144997:exon12:c.C1429A:p.R477R 17p11.2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
1567 17 17215228 C G Pathogenic FLCN . . . . . . . . . . 17 17215228 17215228 C G exonic FLCN . synonymous SNV FLCN:NM_144997:exon12:c.C1389C:p.Y463Y 17p11.2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
1568 17 17217128 C T Pathogenic FLCN . . . . . . . . . . 17 17217128 17217128 C T exonic FLCN . nonsynonymous SNV FLCN:NM_144997:exon10:c.C1117A:p.Q373K 17p11.2 . rs398124524 0.0 D 1.0 D 0.996 D 0.000 D 1 D 2.19 M -4.17 D -2.81 D 0.944 6.531 31 0.997 0.979 D 1.050 D 0.935 D 0.707 0 6.06 0.917 1.048 0.996 0.998 20.628 Deleterious
1569 17 17219206 T G Pathogenic FLCN . . . . . . . . . . 17 17219206 17219206 T G exonic FLCN . nonsynonymous SNV FLCN:NM_144997:exon9:c.T875C:p.L292S 17p11.2 . . 0.03 D 0.495 P 0.13 B 0.000 D 0.996 D 1.61 L -3.13 D -0.88 N 0.863 3.196 22.7 0.996 0.979 D 0.227 D 0.659 D 0.707 0 5.97 1.062 1.199 0.874 0.986 16.450 Deleterious
1570 17 17222500 G T Pathogenic FLCN . . . . . . . . . . 17 17222500 17222500 G T splicing FLCN NM_144997:exon7:c.779+1C>A,NM_144606:exon7:c.779+1C>A . . 17p11.2 . . . . . . . . . . 1 D . . . . . . . 5.861 27.3 0.995 0.985 D . . . . 0.257 0 5.71 0.871 0.935 0.972 0.930 19.843 Deleterious (FATHMM)
1571 17 17224041 C T Pathogenic FLCN . . . . . . . . . . 17 17224041 17224041 C T exonic FLCN . nonsynonymous SNV FLCN:NM_144606:exon6:c.C499A:p.Q167K,FLCN:NM_144997:exon6:c.C499A:p.Q167K 17p11.2 . . 0.206 T 0.996 D 0.979 D 0.000 D 1 D 0.945 L -2.33 D -1.73 N 0.764 2.815 21.4 0.996 0.993 D 0.118 D 0.668 D 0.732 0 5.74 0.917 1.048 1.000 1.000 19.270 Deleterious
1572 17 17226226 C T Pathogenic FLCN . . . . . . . . . . 17 17226226 17226226 C T exonic FLCN . nonsynonymous SNV FLCN:NM_144606:exon5:c.C346A:p.Q116K,FLCN:NM_144997:exon5:c.C346A:p.Q116K 17p11.2 . rs398124536 0.085 T 0.989 D 0.89 P 0.000 D 1.000 D 0.83 L -2.34 D -1.39 N 0.597 3.079 22.5 0.996 0.991 D 0.241 D 0.649 D 0.707 0 5.84 0.917 1.045 0.989 0.999 19.116 Deleterious
1573 17 17226323 G A Pathogenic FLCN . . . . . . . . . . 17 17226323 17226323 G A splicing FLCN NM_144997:exon5:c.250-1C>T,NM_144606:exon5:c.250-1C>T . . 17p11.2 . . . . . . . . . . 1 D . . . . . . . 5.103 25.3 0.995 0.989 D . . . . 0.295 0 4.66 0.871 0.932 0.848 0.934 13.521 Deleterious (FATHMM)
1574 17 17226324 A G Pathogenic FLCN . . . . . . . . . . 17 17226324 17226324 A G splicing FLCN NM_144997:exon5:c.250-2T>C,NM_144606:exon5:c.250-2T>C . . 17p11.2 . . . . . . . . . . 1 D . . . . . . . 4.414 24.1 0.990 0.987 D . . . . 0.156 0 4.56 0.991 1.058 0.695 0.861 10.665 Deleterious (FATHMM)
1575 17 19663335 C T Pathogenic ALDH3A2 . . . . . . . . . . 17 19663335 19663335 C T exonic ALDH3A2 . nonsynonymous SNV ALDH3A2:NM_000382:exon7:c.C943T:p.P315S,ALDH3A2:NM_001031806:exon7:c.C943T:p.P315S 17p11.2 . rs72547571 0.0 D 1.0 D 0.998 D 0.000 D 1 A 3.985 H -2.6 D -7.82 D 0.944 6.603 31 0.935 0.954 D 1.050 D 0.892 D 0.722 0 5.12 0.824 0.919 0.972 0.984 17.577 Deleterious
1576 17 31095340 C T Pathogenic/Likely pathogenic NF1 . . . . . . . . . . 17 31095340 31095340 C T exonic NF1 . stopgain NF1:NM_000267:exon1:c.C31T:p.Q11X,NF1:NM_001042492:exon1:c.C31T:p.Q11X,NF1:NM_001128147:exon1:c.C31T:p.Q11X 17q11.2 . . . . . . . . 0.000 U 1 A . . . . . . . 8.922 35 0.997 0.461 N . . . . 0.267 1 2.6 -0.089 0.724 0.995 1.000 10.920 Deleterious (DANN)
1577 17 31181460 C T Pathogenic NF1 . . . . . . . . . . 17 31181460 31181460 C T exonic NF1 . stopgain NF1:NM_000267:exon6:c.C625T:p.Q209X,NF1:NM_001042492:exon6:c.C625T:p.Q209X,NF1:NM_001128147:exon6:c.C625T:p.Q209X 17q11.2 . rs786203448 . . . . . . 0.000 D 1 A . . . . . . . 10.900 37 0.998 0.981 D . . . . 0.706 0 5.39 0.871 0.807 0.991 0.997 14.044 Deleterious (FATHMM)
1578 17 31206297 C T Pathogenic NF1 . . . . . . . . . . 17 31206297 31206297 C T exonic NF1 . stopgain NF1:NM_000267:exon12:c.C1318T:p.R440X,NF1:NM_001042492:exon12:c.C1318T:p.R440X,NF1:NM_001128147:exon12:c.C1318T:p.R440X 17q11.2 . rs778405030 . . . . . . 0.000 D 1 A . . . . . . . 11.328 37 0.997 0.979 D . . . . 0.732 0 5.2 0.871 0.044 0.999 0.999 17.001 Deleterious (FATHMM)
1579 17 31206360 C T Pathogenic NF1 . . . . . . . . . . 17 31206360 31206360 C T exonic NF1 . stopgain NF1:NM_000267:exon12:c.C1381T:p.R461X,NF1:NM_001042492:exon12:c.C1381T:p.R461X,NF1:NM_001128147:exon12:c.C1381T:p.R461X 17q11.2 . . . . . . . . 0.000 D 1 A . . . . . . . 12.128 38 0.997 0.987 D . . . . 0.651 0 4.16 0.871 0.038 1.000 0.998 15.853 Deleterious (FATHMM)
1580 17 31225134 G A Pathogenic NF1 . . . . . . . . . . 17 31225134 31225134 G A exonic NF1 . nonsynonymous SNV NF1:NM_000267:exon17:c.G1885A:p.G629R,NF1:NM_001042492:exon17:c.G1885A:p.G629R 17q11.2 . rs199474738 0.071 T 1.0 D 0.996 D 0.000 D 0.999 D 0 N 3.41 T -1.36 N 0.957 1.885 15.50 0.991 0.982 D -0.940 T 0.032 T 0.706 0 5.26 0.917 1.048 0.998 0.829 15.853 Tolerated
1581 17 31227254 T C Pathogenic/Likely pathogenic, not provided NF1 . . . . . . . . . . 17 31227254 31227254 T C exonic NF1 . nonsynonymous SNV NF1:NM_000267:exon19:c.T2288C:p.L763P,NF1:NM_001042492:exon19:c.T2288C:p.L763P 17q11.2 . rs199474762 0.0 D 1.0 D 0.999 D 0.000 D 1 D 1.685 L 1.21 T -5.12 D 0.998 6.440 29.8 0.999 0.988 D -0.119 T 0.430 T 0.719 0 5.25 0.991 1.061 0.999 0.996 15.440 Tolerated
1582 17 31230384 T G Pathogenic/Likely pathogenic NF1 . . . . . . . . . . 17 31230384 31230384 T G splicing NF1 NM_000267:exon23:c.3113+2T>G,NM_001042492:exon23:c.3113+2T>G . . 17q11.2 . . . . . . . . . . 1 D . . . . . . . 5.041 25.2 0.992 0.987 D . . . . 0.089 0 5.33 0.991 1.011 0.999 1.000 15.297 Deleterious (FATHMM)
1583 17 31235623 C T Pathogenic NF1 . . . . . . . . . . 17 31235623 31235623 C T exonic NF1 . stopgain NF1:NM_000267:exon28:c.C3721T:p.R1241X,NF1:NM_001042492:exon28:c.C3721T:p.R1241X 17q11.2 . rs137854562 . . . . . . 0.000 D 1 A . . . . . . . 13.300 41 0.998 0.942 D . . . . 0.615 0 4.8 0.871 0.935 0.999 1.000 16.124 Deleterious (FATHMM)
1584 17 31235728 C T Pathogenic NF1 . . . . . . . . . . 17 31235728 31235728 C T exonic NF1 . stopgain NF1:NM_000267:exon28:c.C3826T:p.R1276X,NF1:NM_001042492:exon28:c.C3826T:p.R1276X 17q11.2 . rs199474742 . . . . . . 0.000 D 1 A . . . . . . . 13.752 43 0.998 0.917 D . . . . 0.719 0 5.15 -0.058 0.935 0.989 0.999 14.734 Deleterious (FATHMM)
1585 17 31261733 C T Pathogenic NF1 . . . . . . . . . . 17 31261733 31261733 C T exonic NF1 . stopgain NF1:NM_000267:exon34:c.C4537T:p.R1513X,NF1:NM_001042492:exon35:c.C4600T:p.R1534X 17q11.2 . rs760703505 . . . . . . 0.000 D 1 A . . . . . . . 13.578 42 0.997 0.934 D . . . . 0.707 0 5.44 0.871 0.935 1.000 1.000 13.250 Deleterious (FATHMM)
1586 17 31338739 C A Pathogenic NF1 . . . . . . . . . . 17 31338739 31338739 C A exonic NF1 . stopgain NF1:NM_000267:exon45:c.C6792A:p.Y2264X,NF1:NM_001042492:exon46:c.C6855A:p.Y2285X 17q11.2 . rs772295894 . . . . . . 0.000 D 1 A . . . . . . . 14.147 44 0.996 0.976 D . . . . 0.732 0 4.94 0.871 0.935 1.000 1.000 9.921 Deleterious (FATHMM)
1587 17 31357308 C T Pathogenic/Likely pathogenic NF1 . . . . . . . . . . 17 31357308 31357308 C T exonic NF1 . stopgain NF1:NM_000267:exon53:c.C7846T:p.R2616X,NF1:NM_001042492:exon54:c.C7909T:p.R2637X 17q11.2 . rs786201367 . . . . . . 0.000 D 1 A . . . . . . . 13.528 42 0.996 0.913 D . . . . 0.732 0 3.93 0.871 0.015 0.991 0.998 14.430 Deleterious (FATHMM)
1588 17 35101347 C T Pathogenic, risk factor RAD51D|RAD51L3-RFFL . . . . . . . . . . 17 35101347 35101347 C T exonic RAD51D . synonymous SNV RAD51D:NM_133629:exon6:c.C421A:p.R141R,RAD51D:NM_001142571:exon9:c.C817A:p.R273R,RAD51D:NM_002878:exon9:c.C757A:p.R253R 17q12 . rs137886232 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
1589 17 35103298 C T Pathogenic RAD51D|RAD51L3-RFFL . . . . . . . . . . 17 35103298 35103298 C T exonic RAD51D . synonymous SNV RAD51D:NM_133629:exon5:c.C358A:p.R120R,RAD51D:NM_001142571:exon8:c.C754A:p.R252R,RAD51D:NM_002878:exon8:c.C694A:p.R232R 17q12 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
1590 17 35106406 C T Pathogenic, risk factor RAD51D|RAD51L3-RFFL . . . . . . . . . . 17 35106406 35106406 C T exonic RAD51D . synonymous SNV RAD51D:NM_133629:exon3:c.C220A:p.R74R,RAD51D:NM_001142571:exon6:c.C616A:p.R206R,RAD51D:NM_002878:exon6:c.C556A:p.R186R 17q12 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
1591 17 42316899 C T Pathogenic STAT3 . . . . . . . . . . 17 42316899 42316899 C T exonic STAT3 . nonsynonymous SNV STAT3:NM_003150:exon23:c.C2144A:p.T715K,STAT3:NM_139276:exon23:c.C2147A:p.T716K 17q21.2 . . 0.277 T 0.872 P 0.357 B 0.000 D 1 D 0.455 N -4.24 D -0.49 N 0.71 1.913 15.67 0.973 0.952 D 0.308 D 0.720 D 0.722 0 3.13 0.917 -0.222 1.000 0.998 11.248 Deleterious
1592 17 42329448 G A Pathogenic/Likely pathogenic STAT3 . . . . . . . . . . 17 42329448 42329448 G A exonic STAT3 . stopgain STAT3:NM_003150:exon14:c.G1243T:p.E415X,STAT3:NM_139276:exon14:c.G1243T:p.E415X,STAT3:NM_213662:exon14:c.G1243T:p.E415X 17q21.2 . . . . . . . . 0.000 D 1 A . . . . . . . 14.232 45 0.996 0.993 D . . . . 0.731 0 5.49 0.871 0.935 1.000 1.000 19.576 Deleterious (FATHMM)
1593 17 42541074 C T Pathogenic NAGLU . . . . . . . . . . 17 42541074 42541074 C T exonic NAGLU . stopgain NAGLU:NM_000263:exon5:c.C889T:p.R297X 17q21.2 7.7e-05 rs104894592 . . . . . . 0.987 N 1 A . . . . . . . 9.769 36 0.997 0.476 N . . . . 0.722 0 1.67 -0.058 -0.381 0.994 0.944 6.356 Deleterious (DANN)
1594 17 42903947 C T Pathogenic G6PC . . . . . . . . . . 17 42903947 42903947 C T exonic G6PC . nonsynonymous SNV G6PC:NM_000151:exon2:c.C247T:p.R83C,G6PC:NM_001270397:exon2:c.C247T:p.R83C 17q21.31 0.0005 rs1801175 0.0 D 1.0 D 0.999 D 0.000 D 1 A 4.245 H -2.19 D -6.9 D 0.989 7.756 35 0.999 0.861 D 0.998 D 0.861 D 0.497 0 4.93 0.871 0.892 0.996 0.979 11.236 Deleterious
1595 17 42911235 C T Pathogenic/Likely pathogenic G6PC . . . . . . . . . . 17 42911235 42911235 C T exonic G6PC . nonsynonymous SNV G6PC:NM_000151:exon5:c.C883T:p.R295C 17q21.31 . rs104894563 0.0 D 1.0 D 0.997 D 0.000 D 1 A 2.44 M -1.11 T -3.43 D 0.811 7.657 35 0.999 0.906 D 0.392 D 0.647 D 0.447 0 5.07 0.871 0.843 0.801 0.969 18.643 Deleterious
1596 17 42911321 C A Pathogenic/Likely pathogenic G6PC . . . . . . . . . . 17 42911321 42911321 C A exonic G6PC . stopgain G6PC:NM_000151:exon5:c.C969A:p.Y323X 17q21.31 . rs780226142 . . . . . . 0.000 D 1 D . . . . . . . 6.358 29.4 0.984 0.260 N . . . . 0.549 0 -5.67 0.871 0.011 0.967 0.672 15.069 Deleterious (DANN)
1597 17 42911391 C T Pathogenic G6PC . . . . . . . . . . 17 42911391 42911391 C T exonic G6PC . stopgain G6PC:NM_000151:exon5:c.C1039T:p.Q347X 17q21.31 0.0007 rs80356487 . . . . . . 0.433 N 1.000 A . . . . . . . 7.792 35 0.906 0.206 N . . . . 0.447 0 -1.8 0.871 0.011 0.911 0.824 10.427
1598 17 43047641 T C Pathogenic/Likely pathogenic BRCA1 . . . . . . . . . . 17 43047641 43047641 T C splicing BRCA1 NM_007297:exon21:c.5326+2A>G,NM_007294:exon22:c.5467+2A>G,NM_007298:exon21:c.2155+2A>G,NM_007299:exon21:c.2081+2A>G,NM_007300:exon23:c.5530+2A>G . . 17q21.31 . rs80358009 . . . . . . . . 1 D . . . . . . . 4.170 23.8 0.987 0.928 D . . . . 0.295 0 4.98 1.062 1.083 0.566 0.189 10.983 Deleterious (FATHMM)
1599 17 43047642 G A Pathogenic/Likely pathogenic BRCA1 . . . . . . . . . . 17 43047642 43047642 G A splicing BRCA1 NM_007297:exon21:c.5326+1C>T,NM_007294:exon22:c.5467+1C>T,NM_007298:exon21:c.2155+1C>T,NM_007299:exon21:c.2081+1C>T,NM_007300:exon23:c.5530+1C>T . . 17q21.31 . . . . . . . . . . 1 D . . . . . . . 5.021 25.2 0.991 0.908 D . . . . 0.295 0 4.98 0.871 0.848 0.540 0.185 13.620 Deleterious (FATHMM)
1600 17 43051118 G T Pathogenic BRCA1 . . . . . . . . . . 17 43051118 43051118 G T splicing BRCA1 NM_007297:exon19:c.5137-1C>A,NM_007294:exon20:c.5278-1C>A,NM_007298:exon19:c.1966-1C>A,NM_007299:exon20:c.1966-1C>A,NM_007300:exon21:c.5341-1C>A . . 17q21.31 . rs80358099 . . . . . . . . 1 D . . . . . . . 5.343 25.9 0.992 0.892 D . . . . 0.295 0 5.06 0.871 0.935 0.990 0.941 14.128 Deleterious (FATHMM)
1601 17 43051118 G C Pathogenic BRCA1 . . . . . . . . . . 17 43051118 43051118 G C splicing BRCA1 NM_007297:exon19:c.5137-1C>G,NM_007294:exon20:c.5278-1C>G,NM_007298:exon19:c.1966-1C>G,NM_007299:exon20:c.1966-1C>G,NM_007300:exon21:c.5341-1C>G . . 17q21.31 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .
1602 17 43057137 A G Pathogenic/Likely pathogenic, not provided BRCA1 . . . . . . . . . . 17 43057137 43057137 A G splicing BRCA1 NM_007297:exon18:c.5053-2T>C,NM_007294:exon19:c.5194-2T>C,NM_007298:exon18:c.1882-2T>C,NM_007299:exon19:c.1882-2T>C,NM_007300:exon20:c.5257-2T>C . . 17q21.31 . rs80358069 . . . . . . . . 1 D . . . . . . . 4.784 24.7 0.988 0.943 D . . . . 0.106 0 5.07 0.991 1.055 0.970 0.982 11.15 Deleterious (FATHMM)
1603 17 43063332 G C Pathogenic BRCA1 . . . . . . . . . . 17 43063332 43063332 G C splicing BRCA1 NM_007297:exon17:c.5052+1C>G,NM_007294:exon18:c.5193+1C>G,NM_007298:exon17:c.1881+1C>G,NM_007299:exon18:c.1881+1C>G,NM_007300:exon19:c.5256+1C>G . . 17q21.31 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .
1604 17 43063375 A G Pathogenic/Likely pathogenic BRCA1 . . . . . . . . . . 17 43063375 43063375 A G splicing BRCA1 NM_007297:exon17:c.5012-2T>C,NM_007294:exon18:c.5153-2T>C,NM_007298:exon17:c.1841-2T>C,NM_007299:exon18:c.1841-2T>C,NM_007300:exon19:c.5216-2T>C . . 17q21.31 . . . . . . . . . . 1 D . . . . . . . 4.885 24.9 0.987 0.945 D . . . . 0.106 0 5.46 0.991 0.913 0.698 0.989 12.213 Deleterious (FATHMM)
1605 17 43063873 G A Pathogenic BRCA1 . . . . . . . . . . 17 43063873 43063873 G A splicing BRCA1 NM_007297:exon16:c.5011+1C>T,NM_007294:exon17:c.5152+1C>T,NM_007298:exon16:c.1840+1C>T,NM_007299:exon17:c.1840+1C>T,NM_007300:exon18:c.5215+1C>T . . 17q21.31 . rs80358094 . . . . . . . . 1 D . . . . . . . 5.682 26.8 0.993 0.987 D . . . . 0.295 0 6.04 0.871 0.876 0.967 0.996 16.079 Deleterious (FATHMM)
1606 17 43063873 G C Pathogenic BRCA1 . . . . . . . . . . 17 43063873 43063873 G C splicing BRCA1 NM_007297:exon16:c.5011+1C>G,NM_007294:exon17:c.5152+1C>G,NM_007298:exon16:c.1840+1C>G,NM_007299:exon17:c.1840+1C>G,NM_007300:exon18:c.5215+1C>G . . 17q21.31 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .
1607 17 43063953 A G Pathogenic BRCA1 . . . . . . . . . . 17 43063953 43063953 A G splicing BRCA1 NM_007297:exon16:c.4934-2T>C,NM_007294:exon17:c.5075-2T>C,NM_007298:exon16:c.1763-2T>C,NM_007299:exon17:c.1763-2T>C,NM_007300:exon18:c.5138-2T>C . . 17q21.31 . rs80358066 . . . . . . . . 1 D . . . . . . . 4.800 24.8 0.989 0.944 D . . . . 0.162 0 5.83 0.991 0.993 0.972 1.000 12.594 Deleterious (FATHMM)
1608 17 43067608 G C Pathogenic/Likely pathogenic, not provided BRCA1 . . . . . . . . . . 17 43067608 43067608 G C exonic BRCA1 . synonymous SNV BRCA1:NM_007297:exon15:c.G4933G:p.D1645D,BRCA1:NM_007298:exon15:c.G1762G:p.D588D,BRCA1:NM_007294:exon16:c.G5074G:p.D1692D,BRCA1:NM_007299:exon16:c.G1762G:p.D588D,BRCA1:NM_007300:exon17:c.G5137G:p.D1713D 17q21.31 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
1609 17 43067608 G A Pathogenic/Likely pathogenic, not provided BRCA1 . . . . . . . . . . 17 43067608 43067608 G A exonic BRCA1 . nonsynonymous SNV BRCA1:NM_007297:exon15:c.G4933T:p.D1645Y,BRCA1:NM_007298:exon15:c.G1762T:p.D588Y,BRCA1:NM_007294:exon16:c.G5074T:p.D1692Y,BRCA1:NM_007299:exon16:c.G1762T:p.D588Y,BRCA1:NM_007300:exon17:c.G5137T:p.D1713Y 17q21.31 . rs80187739 0.001 D 1.0 D 1.0 D 0.000 D 1 D 2.775 M -1.25 T -1.24 N 0.947 5.624 26.6 0.995 0.935 D 0.428 D 0.653 D 0.706 0 5.24 0.871 0.770 0.994 0.984 14.674 Deleterious
1610 17 43067697 A G Pathogenic BRCA1 . . . . . . . . . . 17 43067697 43067697 A G splicing BRCA1 NM_007297:exon15:c.4846-2T>C,NM_007294:exon16:c.4987-2T>C,NM_007298:exon15:c.1675-2T>C,NM_007299:exon16:c.1675-2T>C,NM_007300:exon17:c.5050-2T>C . . 17q21.31 . . . . . . . . . . 1 D . . . . . . . 4.003 23.6 0.986 0.937 D . . . . 0.106 0 5.24 0.991 0.871 0.988 0.571 11.812 Deleterious (FATHMM)
1611 17 43070922 T G Pathogenic/Likely pathogenic, not provided BRCA1 . . . . . . . . . . 17 43070922 43070922 T G intronic BRCA1 . . . 17q21.31 . rs80358086 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . probably Tolerated (Intron)
1612 17 43070922 T C Pathogenic/Likely pathogenic, not provided BRCA1 . . . . . . . . . . 17 43070922 43070922 T C intronic BRCA1 . . . 17q21.31 . rs80358086 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . probably Tolerated (Intron)
1613 17 43070924 A T Pathogenic/Likely pathogenic, not provided BRCA1 . . . . . . . . . . 17 43070924 43070924 A T intronic BRCA1 . . . 17q21.31 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . probably Tolerated (Intron)
1614 17 43071239 G A Pathogenic/Likely pathogenic BRCA1 . . . . . . . . . . 17 43071239 43071239 G A splicing BRCA1 NM_007297:exon14:c.4535-1C>T,NM_007294:exon15:c.4676-1C>T,NM_007298:exon14:c.1364-1C>T,NM_007299:exon15:c.1364-1C>T,NM_007300:exon16:c.4739-1C>T . . 17q21.31 . . . . . . . . . . 1 D . . . . . . . 4.003 23.6 0.969 0.901 D . . . . 0.295 0 4.78 0.871 0.935 0.680 0.452 13.507 Deleterious (FATHMM)
1615 17 43074331 G C Pathogenic/Likely pathogenic, not provided BRCA1 . . . . . . . . . . 17 43074331 43074331 G C exonic BRCA1 . synonymous SNV BRCA1:NM_007297:exon13:c.G4534G:p.E1512E,BRCA1:NM_007298:exon13:c.G1363G:p.E455E,BRCA1:NM_007294:exon14:c.G4675G:p.E1559E,BRCA1:NM_007299:exon14:c.G1363G:p.E455E,BRCA1:NM_007300:exon15:c.G4738G:p.E1580E 17q21.31 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
1616 17 43074331 G A Pathogenic BRCA1 . . . . . . . . . . 17 43074331 43074331 G A exonic BRCA1 . stopgain BRCA1:NM_007297:exon13:c.G4534T:p.E1512X,BRCA1:NM_007298:exon13:c.G1363T:p.E455X,BRCA1:NM_007294:exon14:c.G4675T:p.E1559X,BRCA1:NM_007299:exon14:c.G1363T:p.E455X,BRCA1:NM_007300:exon15:c.G4738T:p.E1580X 17q21.31 . . . . . . . . 0.001 N 1 A . . . . . . . 15.046 49 0.997 0.968 D . . . . 0.732 0 5.54 0.871 0.928 0.416 0.993 14.857 Deleterious (FATHMM)
1617 17 43074522 G T Pathogenic BRCA1 . . . . . . . . . . 17 43074522 43074522 G T splicing BRCA1 NM_007297:exon13:c.4344-1C>A,NM_007294:exon14:c.4485-1C>A,NM_007298:exon13:c.1173-1C>A,NM_007299:exon14:c.1173-1C>A,NM_007300:exon15:c.4548-1C>A . . 17q21.31 . rs80358189 . . . . . . . . 1.000 D . . . . . . . 2.505 19.50 0.924 0.676 D . . . . 0.295 0 4.19 0.871 0.928 0.720 0.073 9.434 Deleterious (FATHMM)
1618 17 43074522 G A Pathogenic BRCA1 . . . . . . . . . . 17 43074522 43074522 G A splicing BRCA1 NM_007297:exon13:c.4344-1C>T,NM_007294:exon14:c.4485-1C>T,NM_007298:exon13:c.1173-1C>T,NM_007299:exon14:c.1173-1C>T,NM_007300:exon15:c.4548-1C>T . . 17q21.31 . . . . . . . . . . 1.000 D . . . . . . . 2.734 21.0 0.931 0.733 D . . . . 0.295 0 4.19 0.871 0.928 0.720 0.073 9.434 Deleterious (FATHMM)
1619 17 43076488 G C Pathogenic BRCA1 . . . . . . . . . . 17 43076488 43076488 G C exonic BRCA1 . synonymous SNV BRCA1:NM_007297:exon12:c.G4343G:p.R1448R,BRCA1:NM_007298:exon12:c.G1172G:p.R391R,BRCA1:NM_007294:exon13:c.G4484G:p.R1495R,BRCA1:NM_007299:exon13:c.G1172G:p.R391R,BRCA1:NM_007300:exon14:c.G4547G:p.R1516R 17q21.31 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
1620 17 43076488 G T Pathogenic BRCA1 . . . . . . . . . . 17 43076488 43076488 G T exonic BRCA1 . nonsynonymous SNV BRCA1:NM_007297:exon12:c.G4343A:p.R1448K,BRCA1:NM_007298:exon12:c.G1172A:p.R391K,BRCA1:NM_007294:exon13:c.G4484A:p.R1495K,BRCA1:NM_007299:exon13:c.G1172A:p.R391K,BRCA1:NM_007300:exon14:c.G4547A:p.R1516K 17q21.31 . rs80357389 0.192 T 0.932 P 0.815 P 0.122 N 1 D 1.1 L -1.91 D -0.38 N 0.647 4.045 23.7 0.988 0.859 D 0.452 D 0.709 D 0.706 0 4.97 0.871 0.935 0.124 0.639 13.587 Deleterious
1621 17 43082403 G T Pathogenic BRCA1 . . . . . . . . . . 17 43082403 43082403 G T splicing BRCA1 NM_007297:exon11:c.4216+1C>A,NM_007294:exon12:c.4357+1C>A,NM_007298:exon11:c.1048+1C>A,NM_007299:exon12:c.1048+1C>A,NM_007300:exon12:c.4357+1C>A . . 17q21.31 . rs80358027 . . . . . . . . 1 D . . . . . . . 5.350 25.9 0.990 0.954 D . . . . 0.156 0 5.26 0.871 0.935 0.106 0.165 15.725 Deleterious (FATHMM)
1622 17 43090944 G A Pathogenic BRCA1 . . . . . . . . . . 17 43090944 43090944 G A exonic BRCA1 . nonsynonymous SNV BRCA1:NM_007297:exon10:c.G4044T:p.Q1348H,BRCA1:NM_007298:exon10:c.G876T:p.Q292H,BRCA1:NM_007294:exon11:c.G4185T:p.Q1395H,BRCA1:NM_007299:exon11:c.G876T:p.Q292H,BRCA1:NM_007300:exon11:c.G4185T:p.Q1395H 17q21.31 . . 0.001 D 1.0 D 0.999 D 0.000 D 1 D 1.1 L -2.21 D -0.91 N 0.62 6.938 33 0.997 0.969 D -0.835 T 0.213 T 0.707 0 4.66 0.871 0.852 0.989 0.998 16.277 Tolerated
1623 17 43091434 G A Pathogenic/Likely pathogenic BRCA1 . . . . . . . . . . 17 43091434 43091434 G A splicing BRCA1 NM_007297:exon9:c.3955+1C>T,NM_007294:exon10:c.4096+1C>T,NM_007300:exon10:c.4096+1C>T . . 17q21.31 . . 0.24 T 1.0 D 0.999 D . . 1 D . . -2.48 D -1.17 N . 5.633 26.6 0.992 0.965 D . . . . 0.156 0 5.31 0.871 0.852 0.827 0.974 16.293 Deleterious (FATHMM)
1624 17 43094861 G T Pathogenic/Likely pathogenic BRCA1 . . . . . . . . . . 17 43094861 43094861 G T splicing BRCA1 NM_007297:exon9:c.530-1C>A,NM_007294:exon10:c.671-1C>A,NM_007298:exon9:c.671-1C>A,NM_007299:exon10:c.671-1C>A,NM_007300:exon10:c.671-1C>A . . 17q21.31 . rs80358020 . . . . . . . . 1 D . . . . . . . 3.356 22.9 0.985 0.969 D . . . . 0.295 0 4.86 0.871 0.807 1.000 0.998 16.715 Deleterious (FATHMM)
1625 17 43095845 G T Pathogenic/Likely pathogenic BRCA1 . . . . . . . . . . 17 43095845 43095845 G T splicing BRCA1 NM_007297:exon8:c.529+1C>A,NM_007294:exon9:c.670+1C>A,NM_007298:exon8:c.670+1C>A,NM_007299:exon9:c.670+1C>A,NM_007300:exon9:c.670+1C>A . . 17q21.31 . . . . . . . . . . 1 D . . . . . . . 4.346 24.1 0.945 0.730 D . . . . 0.156 0 2.56 0.871 0.848 0.948 0.992 7.181 Deleterious (FATHMM)
1626 17 43099774 G T Pathogenic/Likely pathogenic, not provided BRCA1 . . . . . . . . . . 17 43099774 43099774 G T splicing BRCA1 NM_007297:exon6:c.406+1C>A,NM_007294:exon7:c.547+1C>A,NM_007298:exon6:c.547+1C>A,NM_007299:exon7:c.547+1C>A,NM_007300:exon7:c.547+1C>A . . 17q21.31 . rs80358030 . . . . . . . . 1 D . . . . . . . 4.500 24.3 0.985 0.866 D . . . . 0.156 0 5.16 0.871 0.892 0.559 0.898 14.328 Deleterious (FATHMM)
1627 17 43104264 C G Pathogenic/Likely pathogenic, not provided BRCA1 . . . . . . . . . . 17 43104264 43104264 C G intronic BRCA1 . . . 17q21.31 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . probably Tolerated (Intron)
1628 17 43104867 G A Pathogenic/Likely pathogenic BRCA1 . . . . . . . . . . 17 43104867 43104867 G A splicing BRCA1 NM_007297:exon4:c.160+1C>T,NM_007294:exon5:c.301+1C>T,NM_007298:exon4:c.301+1C>T,NM_007299:exon5:c.301+1C>T,NM_007300:exon5:c.301+1C>T . . 17q21.31 . rs587782173 . . . . . . . . 1 D . . . . . . . 4.927 25.0 0.989 0.988 D . . . . 0.164 0 5.3 0.871 0.935 0.988 0.989 16.263 Deleterious (FATHMM)
1629 17 43104957 G A Pathogenic BRCA1 . . . . . . . . . . 17 43104957 43104957 G A splicing BRCA1 NM_007297:exon4:c.72-1C>T,NM_007294:exon5:c.213-1C>T,NM_007298:exon4:c.213-1C>T,NM_007299:exon5:c.213-1C>T,NM_007300:exon5:c.213-1C>T . . 17q21.31 . . . . . . . . . . 1 D . . . . . . . 5.626 26.6 0.992 0.972 D . . . . 0.164 0 5.3 0.871 0.935 0.977 0.998 15.802 Deleterious (FATHMM)
1630 17 43104958 A G Pathogenic BRCA1 . . . . . . . . . . 17 43104958 43104958 A G splicing BRCA1 NM_007297:exon4:c.72-2T>C,NM_007294:exon5:c.213-2T>C,NM_007298:exon4:c.213-2T>C,NM_007299:exon5:c.213-2T>C,NM_007300:exon5:c.213-2T>C . . 17q21.31 . rs397508940 . . . . . . . . 1 D . . . . . . . 4.990 25.1 0.981 0.972 D . . . . 0.106 0 5.3 0.991 1.061 0.973 1.000 12.729 Deleterious (FATHMM)
1631 17 43104967 T G Pathogenic BRCA1 . . . . . . . . . . 17 43104967 43104967 T G intronic BRCA1 . . . 17q21.31 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . probably Tolerated (Intron)
1632 17 43104968 A G Pathogenic BRCA1 . . . . . . . . . . 17 43104968 43104968 A G intronic BRCA1 . . . 17q21.31 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . probably Tolerated (Intron)
1633 17 43106455 G T Pathogenic BRCA1 . . . . . . . . . . 17 43106455 43106455 G T splicing BRCA1 NM_007297:exon3:c.71+1C>A,NM_007294:exon4:c.212+1C>A,NM_007298:exon3:c.212+1C>A,NM_007299:exon4:c.212+1C>A,NM_007300:exon4:c.212+1C>A . . 17q21.31 . rs80358042 . . . . . . . . 1 D . . . . . . . 5.347 25.9 0.992 0.964 D . . . . 0.164 0 4.64 0.871 0.791 0.969 0.998 14.711 Deleterious (FATHMM)
1634 17 43106455 G A Pathogenic BRCA1 . . . . . . . . . . 17 43106455 43106455 G A splicing BRCA1 NM_007297:exon3:c.71+1C>T,NM_007294:exon4:c.212+1C>T,NM_007298:exon3:c.212+1C>T,NM_007299:exon4:c.212+1C>T,NM_007300:exon4:c.212+1C>T . . 17q21.31 . rs80358042 . . . . . . . . 1 D . . . . . . . 5.455 26.1 0.992 0.967 D . . . . 0.164 0 4.64 0.871 0.791 0.969 0.998 14.711 Deleterious (FATHMM)
1635 17 43106456 G T Pathogenic/Likely pathogenic BRCA1 . . . . . . . . . . 17 43106456 43106456 G T exonic BRCA1 . nonsynonymous SNV BRCA1:NM_007297:exon3:c.G71A:p.R24K,BRCA1:NM_007298:exon3:c.G212A:p.R71K,BRCA1:NM_007294:exon4:c.G212A:p.R71K,BRCA1:NM_007299:exon4:c.G212A:p.R71K,BRCA1:NM_007300:exon4:c.G212A:p.R71K 17q21.31 . rs80356913 0.026 D 0.999 D 0.987 D 0.000 D 1 D 2.135 M -1.98 D -0.1 N 0.863 4.511 24.3 0.995 0.964 D 0.780 D 0.843 D 0.651 0 4.64 0.871 0.791 0.986 0.999 14.711 Deleterious
1636 17 43106457 A G Pathogenic/Likely pathogenic BRCA1 . . . . . . . . . . 17 43106457 43106457 A G exonic BRCA1 . synonymous SNV BRCA1:NM_007297:exon3:c.A70C:p.R24R,BRCA1:NM_007298:exon3:c.A211C:p.R71R,BRCA1:NM_007294:exon4:c.A211C:p.R71R,BRCA1:NM_007299:exon4:c.A211C:p.R71R,BRCA1:NM_007300:exon4:c.A211C:p.R71R 17q21.31 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
1637 17 43106476 T G Pathogenic/Likely pathogenic BRCA1 . . . . . . . . . . 17 43106476 43106476 T G exonic BRCA1 . synonymous SNV BRCA1:NM_007297:exon3:c.T51C:p.C17C,BRCA1:NM_007298:exon3:c.T192C:p.C64C,BRCA1:NM_007294:exon4:c.T192C:p.C64C,BRCA1:NM_007299:exon4:c.T192C:p.C64C,BRCA1:NM_007300:exon4:c.T192C:p.C64C 17q21.31 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
1638 17 43106477 G A Pathogenic BRCA1 . . . . . . . . . . 17 43106477 43106477 G A exonic BRCA1 . nonsynonymous SNV BRCA1:NM_007297:exon3:c.G50T:p.C17F,BRCA1:NM_007298:exon3:c.G191T:p.C64F,BRCA1:NM_007294:exon4:c.G191T:p.C64F,BRCA1:NM_007299:exon4:c.G191T:p.C64F,BRCA1:NM_007300:exon4:c.G191T:p.C64F 17q21.31 . . 0.001 D 1.0 D 0.999 D 0.000 D 1 D 4.325 H -4.01 D -1.23 N 0.963 6.614 32 0.992 0.967 D 0.938 D 0.993 D 0.651 0 4.64 0.871 0.791 0.999 1.000 14.711 Deleterious
1639 17 43106534 G T Pathogenic BRCA1 . . . . . . . . . . 17 43106534 43106534 G T splicing BRCA1 NM_007294:exon4:c.135-1C>A,NM_007298:exon3:c.135-1C>A,NM_007299:exon4:c.135-1C>A,NM_007300:exon4:c.135-1C>A . . 17q21.31 . . . . . . . . . . 1 D . . . . . . . 5.100 25.3 0.991 0.930 D . . . . 0.322 0 4.64 0.871 0.791 1.000 1.000 13.198 Deleterious (FATHMM)
1640 17 43106535 A G Pathogenic/Likely pathogenic BRCA1 . . . . . . . . . . 17 43106535 43106535 A G splicing BRCA1 NM_007294:exon4:c.135-2T>C,NM_007298:exon3:c.135-2T>C,NM_007299:exon4:c.135-2T>C,NM_007300:exon4:c.135-2T>C . . 17q21.31 . . . . . . . . . . 1 D . . . . . . . 4.566 24.4 0.983 0.882 D . . . . 0.106 0 4.55 0.938 0.895 0.999 0.999 10.448 Deleterious (FATHMM)
1641 17 43115724 T C Pathogenic BRCA1 . . . . . . . . . . 17 43115724 43115724 T C splicing BRCA1 NM_007294:exon3:c.134+2A>G,NM_007298:exon2:c.134+2A>G,NM_007299:exon3:c.134+2A>G,NM_007300:exon3:c.134+2A>G . . 17q21.31 . rs80358131 . . . . . . . . 1 D . . . . . . . 4.880 24.9 0.989 0.931 D . . . . 0.322 0 5.97 1.062 1.199 0.989 1.000 12.853 Deleterious (FATHMM)
1642 17 43115780 G A Pathogenic/Likely pathogenic BRCA1 . . . . . . . . . . 17 43115780 43115780 G A splicing BRCA1 NM_007294:exon3:c.81-1C>T,NM_007298:exon2:c.81-1C>T,NM_007299:exon3:c.81-1C>T,NM_007300:exon3:c.81-1C>T . . 17q21.31 . . . . . . . . . . 1 D . . . . . . . 5.374 25.9 0.991 0.914 D . . . . 0.322 0 5.97 0.871 0.935 0.953 0.959 15.939 Deleterious (FATHMM)
1643 17 43124094 G T Pathogenic BRCA1 . . . . . . . . . . 17 43124094 43124094 G T exonic BRCA1 . nonsynonymous SNV BRCA1:NM_007298:exon1:c.G3A:p.M1I,BRCA1:NM_007294:exon2:c.G3A:p.M1I,BRCA1:NM_007299:exon2:c.G3A:p.M1I,BRCA1:NM_007300:exon2:c.G3A:p.M1I 17q21.31 . . 0.025 D 0.993 D 0.956 D 0.000 D 1 D . . -1.84 D -0.46 N 0.96 5.867 27.3 0.997 0.682 D 0.522 D 0.710 D 0.635 0 3.83 0.871 -0.039 0.995 0.931 11.102 Deleterious
1644 17 43124096 A G Pathogenic BRCA1 . . . . . . . . . . 17 43124096 43124096 A G exonic BRCA1 . nonsynonymous SNV BRCA1:NM_007298:exon1:c.A1C:p.M1L,BRCA1:NM_007294:exon2:c.A1C:p.M1L,BRCA1:NM_007299:exon2:c.A1C:p.M1L,BRCA1:NM_007300:exon2:c.A1C:p.M1L 17q21.31 . . 0.025 D 0.984 D 0.935 D 0.000 D 1 D . . -1.8 D -0.34 N 0.92 5.494 26.2 0.944 0.813 D 0.354 D 0.654 D 0.635 0 3.83 0.991 0.724 0.990 0.901 8.925 Deleterious
1645 17 44902549 A C Pathogenic CCDC103 . . . . . . . . . . 17 44902549 44902549 A C exonic CCDC103 . nonsynonymous SNV CCDC103:NM_001258395:exon4:c.A461C:p.H154P,CCDC103:NM_001258396:exon4:c.A461C:p.H154P,CCDC103:NM_213607:exon4:c.A461C:p.H154P 17q21.31 0.0010 rs145457535 0.082 T 0.927 P 0.596 P 0.139 U 1.000 N 1.845 L 0.45 T -2.4 N 0.859 1.829 15.16 0.861 0.919 D -0.827 T 0.209 T 0.615 0 5.64 1.062 1.199 0.092 0.281 14.585 Tolerated
1646 17 50167431 G A Pathogenic/Likely pathogenic SGCA . . . . . . . . . . 17 50167431 50167431 G A exonic SGCA . nonsynonymous SNV SGCA:NM_000023:exon2:c.G101A:p.R34H,SGCA:NM_001135697:exon2:c.G101A:p.R34H 17q21.33 0.0002 rs371675217 0.126 T 1.0 D 0.966 D 0.001 D 1 D 1.79 L -4.98 D -0.8 N 0.88 3.905 23.5 0.999 0.761 D 1.038 D 0.943 D 0.517 0 4.47 0.917 0.953 0.475 0.883 12.980 Deleterious
1647 17 50167653 C T Pathogenic SGCA . . . . . . . . . . 17 50167653 50167653 C T exonic SGCA . nonsynonymous SNV SGCA:NM_000023:exon3:c.C229T:p.R77C,SGCA:NM_001135697:exon3:c.C229T:p.R77C 17q21.33 0.0005 rs28933693 0.009 D 1.0 D 0.963 D 0.000 D 1 A 2.085 M -5.0 D -5.15 D 0.881 7.958 35 0.999 0.987 D 1.110 D 0.950 D 0.554 0 4.53 0.871 0.852 0.998 0.992 14.553 Deleterious
1648 17 50167717 G A Pathogenic/Likely pathogenic SGCA . . . . . . . . . . 17 50167717 50167717 G A exonic SGCA . nonsynonymous SNV SGCA:NM_000023:exon3:c.G293A:p.R98H,SGCA:NM_001135697:exon3:c.G293A:p.R98H 17q21.33 7.7e-05 rs137852621 0.114 T 1.0 D 0.998 D 0.034 N 0.001 A 1.79 L -4.49 D -0.92 N 0.715 2.750 21.1 0.999 0.115 N 1.058 D 0.928 D 0.554 0 3.53 0.917 0.953 0.818 0.986 10.011 Deleterious
1649 17 50168005 T C Pathogenic/Likely pathogenic SGCA . . . . . . . . . . 17 50168005 50168005 T C exonic SGCA . nonsynonymous SNV SGCA:NM_000023:exon4:c.T371C:p.I124T,SGCA:NM_001135697:exon4:c.T371C:p.I124T 17q21.33 . rs768814872 0.014 D 0.998 D 0.948 D 0.019 N 0.995 D 1.955 M -5.08 D -2.49 N 0.888 3.548 23.1 0.989 0.829 D 1.052 D 0.946 D 0.616 0 3.69 0.991 0.077 0.981 0.610 7.372 Deleterious
1650 17 50169246 G A Pathogenic SGCA . . . . . . . . . . 17 50169246 50169246 G A exonic SGCA . nonsynonymous SNV SGCA:NM_000023:exon6:c.G739A:p.V247M 17q21.33 0.0002 rs143570936 0.009 D 0.997 D 0.959 D 0.002 N 1 D 1.7 L -4.6 D -0.26 N 0.738 5.676 26.7 0.999 0.838 D 1.044 D 0.919 D 0.422 0 3.85 0.917 1.048 0.998 1.000 8.184 Deleterious
1651 17 50170245 C T Pathogenic/Likely pathogenic SGCA . . . . . . . . . . 17 50170245 50170245 C T exonic SGCA . nonsynonymous SNV SGCA:NM_000023:exon7:c.C850T:p.R284C 17q21.33 7.7e-05 rs137852623 0.0 D 1.0 D 0.995 D 0.011 N 1 D 2.25 M -5.65 D -5.56 D 0.931 7.740 35 0.999 0.718 D 1.079 D 0.975 D 0.554 0 5.8 0.871 0.876 0.881 0.698 14.447 Deleterious
1652 17 50191457 C T Pathogenic/Likely pathogenic COL1A1 . . . . . . . . . . 17 50191457 50191457 C T exonic COL1A1 . nonsynonymous SNV COL1A1:NM_000088:exon32:c.C2161A:p.Q721K 17q21.33 . . 0.536 T 0.909 P 0.749 P 0.000 D 0.992 D 0.19 N -3.1 D -1.21 N 0.552 3.255 22.8 0.965 0.821 D 0.133 D 0.654 D 0.732 0 5.3 0.917 1.048 0.998 0.994 17.745 Deleterious
1653 17 50194032 G A Pathogenic COL1A1 . . . . . . . . . . 17 50194032 50194032 G A exonic COL1A1 . nonsynonymous SNV COL1A1:NM_000088:exon25:c.G1678T:p.G560C 17q21.33 . rs67507747 0.0 D 1.0 D 1.0 D 0.000 D 1 D 4.26 H -5.53 D -7.18 D 0.999 6.269 29.0 0.994 0.970 D 1.005 D 0.985 D 0.707 0 4.43 0.871 0.852 1.000 0.977 15.986 Deleterious
1654 17 58270865 A C Pathogenic MPO . . . . . . . . . . 17 58270865 58270865 A C splicing MPO NM_000250:exon12:c.2031-2T>G . . 17q22 . . . . . . . . . . 1 D . . . . . . . 4.835 24.8 0.995 0.960 D . . . . 0.056 0 5.42 0.991 1.061 0.900 0.997 14.657 Deleterious (FATHMM)
1655 17 58692740 C T Pathogenic RAD51C . . . . . . . . . . 17 58692740 58692740 C T exonic RAD51C . stopgain RAD51C:NM_002876:exon1:c.C97T:p.Q33X,RAD51C:NM_058216:exon1:c.C97T:p.Q33X 17q22 . rs587782528 . . . . . . 0.001 D 1 A . . . . . . . 10.800 36 0.996 0.849 D . . . . 0.731 0 4.75 0.871 0.935 0.893 0.994 15.279 Deleterious (FATHMM)
1656 17 58695182 C T Pathogenic, risk factor RAD51C . . . . . . . . . . 17 58695182 58695182 C T exonic RAD51C . stopgain RAD51C:NM_002876:exon2:c.C397T:p.Q133X,RAD51C:NM_058216:exon2:c.C397T:p.Q133X 17q22 . rs387907159 . . . . . . 0.000 D 1 A . . . . . . . 11.328 37 0.998 0.906 D . . . . 0.706 0 4.43 0.871 0.931 1.000 1.000 13.318 Deleterious (FATHMM)
1657 17 58696790 A T Pathogenic RAD51C . . . . . . . . . . 17 58696790 58696790 A T exonic RAD51C . stopgain RAD51C:NM_058216:exon3:c.A502T:p.R168X 17q22 . rs587781490 . . . . . . 0.000 D 1 A . . . . . . . 12.711 40 0.997 0.774 D . . . . 0.706 0 4.51 1.062 1.193 0.999 1.000 11.441 Deleterious (FATHMM)
1658 17 58703201 C T Pathogenic RAD51C . . . . . . . . . . 17 58703201 58703201 C T exonic RAD51C . stopgain RAD51C:NM_058216:exon4:c.C577T:p.R193X 17q22 . rs200293302 . . . . . . 0.357 N 1 A . . . . . . . 11.582 37 0.997 0.150 N . . . . 0.731 0 3.8 -0.032 0.024 0.690 0.116 6.891 Deleterious (DANN)
1659 17 58709857 A G Pathogenic/Likely pathogenic RAD51C . . . . . . . . . . 17 58709857 58709857 A G splicing RAD51C NM_058216:exon5:c.706-2A>G . . 17q22 . rs587780259 . . . . . . . . 1 D . . . . . . . 4.801 24.8 0.980 0.938 D . . . . 0.295 0 6.0 1.062 1.171 0.988 0.736 15.328 Deleterious (FATHMM)
1660 17 58709862 C T Pathogenic RAD51C . . . . . . . . . . 17 58709862 58709862 C T exonic RAD51C . stopgain RAD51C:NM_058216:exon5:c.C709T:p.R237X 17q22 . rs770637624 . . . . . . 0.000 D 1 A . . . . . . . 11.896 38 0.997 0.780 D . . . . 0.706 0 5.02 0.871 0.024 0.675 0.434 13.030 Deleterious (FATHMM)
1661 17 58724049 G A Pathogenic/Likely pathogenic RAD51C . . . . . . . . . . 17 58724049 58724049 G A exonic RAD51C . stopgain RAD51C:NM_058216:exon7:c.G914A:p.W305X 17q22 . . . . . . . . 0.000 D 1 A . . . . . . . 13.047 41 0.989 0.915 D . . . . 0.732 0 5.11 0.917 0.143 1.000 0.998 12.287 Deleterious (FATHMM)
1662 17 58724090 C T Pathogenic RAD51C . . . . . . . . . . 17 58724090 58724090 C T exonic RAD51C . stopgain RAD51C:NM_058216:exon7:c.C955T:p.R319X 17q22 . rs587781287 . . . . . . 0.823 N 1 A . . . . . . . 13.957 44 0.997 0.715 D . . . . 0.732 0 3.87 0.871 0.935 0.998 0.841 11.613 Deleterious (FATHMM)
1663 17 61685976 T G Pathogenic BRIP1 . . . . . . . . . . 17 61685976 61685976 T G exonic BRIP1 . nonsynonymous SNV BRIP1:NM_032043:exon19:c.T2765C:p.L922S 17q23.2 . . 0.051 T 0.501 P 0.116 B 0.902 N 1 N 1.355 L -0.95 T -0.53 N 0.359 1.157 11.52 0.996 0.073 N -0.863 T 0.267 T 0.638 0 4.71 1.062 1.199 0.007 0.040 8.689 Tolerated
1664 17 61716043 C G Pathogenic BRIP1 . . . . . . . . . . 17 61716043 61716043 C G exonic BRIP1 . synonymous SNV BRIP1:NM_032043:exon17:c.C2400C:p.Y800Y 17q23.2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
1665 17 61780325 C A Pathogenic BRIP1 . . . . . . . . . . 17 61780325 61780325 C A exonic BRIP1 . nonsynonymous SNV BRIP1:NM_032043:exon13:c.C1871T:p.S624L 17q23.2 . rs587781321 0.003 D 1.0 D 0.998 D 0.000 D 1 D 2.71 M 1.98 T -4.48 D 0.827 7.374 34 0.999 0.995 D -0.798 T 0.177 T 0.706 0 5.54 0.917 0.953 0.998 0.995 18.483 Tolerated
1666 17 61793698 G T Pathogenic BRIP1 . . . . . . . . . . 17 61793698 61793698 G T exonic BRIP1 . nonsynonymous SNV BRIP1:NM_032043:exon10:c.G1372A:p.E458K 17q23.2 . . 0.265 T 0.991 D 0.686 P 0.064 N 1.000 D 1.56 L -0.89 T -1.3 N 0.769 5.619 26.6 0.999 0.994 D -0.296 T 0.407 T 0.651 0 4.71 0.871 0.892 0.997 0.994 16.398 Tolerated
1667 17 61799125 C T Pathogenic/Likely pathogenic BRIP1 . . . . . . . . . . 17 61799125 61799125 C T exonic BRIP1 . synonymous SNV BRIP1:NM_032043:exon9:c.C1315A:p.R439R 17q23.2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
1668 17 61801327 C T Pathogenic BRIP1 . . . . . . . . . . 17 61801327 61801327 C T exonic BRIP1 . synonymous SNV BRIP1:NM_032043:exon8:c.C1066A:p.R356R 17q23.2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
1669 17 61847100 G A Pathogenic/Likely pathogenic BRIP1 . . . . . . . . . . 17 61847100 61847100 G A splicing BRIP1 NM_032043:exon6:c.627+1C>T . . 17q23.2 . . . . . . . . . . 1 D . . . . . . . 4.165 23.8 0.984 0.952 D . . . . 0.106 0 5.26 0.871 0.935 0.988 0.999 15.966 Deleterious (FATHMM)
1670 17 61849152 C T Pathogenic BRIP1 . . . . . . . . . . 17 61849152 61849152 C T exonic BRIP1 . synonymous SNV BRIP1:NM_032043:exon5:c.C484A:p.R162R 17q23.2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
1671 17 61849173 C T Pathogenic BRIP1 . . . . . . . . . . 17 61849173 61849173 C T exonic BRIP1 . nonsynonymous SNV BRIP1:NM_032043:exon5:c.C463A:p.Q155K 17q23.2 . . 0.097 T 0.997 D 0.98 D 0.000 D 0.994 D 1.87 L 0.73 T -1.28 N 0.758 3.051 22.4 0.994 0.861 D -0.696 T 0.269 T 0.707 0 5.95 0.917 1.048 1.000 1.000 17.126 Tolerated
1672 17 61859868 G T Pathogenic BRIP1 . . . . . . . . . . 17 61859868 61859868 G T exonic BRIP1 . nonsynonymous SNV BRIP1:NM_032043:exon3:c.G133A:p.E45K 17q23.2 . rs587781292 0.0 D 1.0 D 0.996 D 0.000 D 1.000 D 3.225 M 0.5 T -3.23 D 0.971 7.221 34 0.993 0.989 D 0.010 D 0.445 T 0.707 0 5.56 0.871 0.892 1.000 1.000 18.515 Tolerated
1673 17 63483494 C T Pathogenic/Likely pathogenic ACE . . . . . . . . . . 17 63483494 63483494 C T exonic ACE . stopgain ACE:NM_000789:exon10:c.C1522T:p.R508X 17q23.3 7.7e-05 rs367797185 . . . . . . 0.000 D 1 A . . . . . . . 10.189 36 0.998 0.779 D . . . . 0.707 0 3.91 0.871 0.935 0.994 0.508 8.759 Deleterious (FATHMM)
1674 17 63941940 C T Pathogenic SCN4A . . . . . . . . . . 17 63941940 63941940 C T exonic SCN4A . nonsynonymous SNV SCN4A:NM_000334:exon24:c.C4342A:p.R1448S 17q23.3 . . 0.0 D 1.0 D 0.994 D 0.000 D 1.000 D 2.39 M -4.54 D -5.56 D 0.973 5.676 26.7 0.998 0.850 D 1.045 D 0.940 D 0.646 0 3.71 0.917 0.953 0.999 0.883 9.189 Deleterious
1675 17 70175691 C T Pathogenic KCNJ2 . . . . . . . . . . 17 70175691 70175691 C T exonic KCNJ2 . nonsynonymous SNV KCNJ2:NM_000891:exon2:c.C652T:p.R218W 17q24.3 . rs104894578 0.0 D 1.0 D 1.0 D 0.000 D 1.000 A 3.99 H -4.23 D -7.72 D 0.991 6.256 28.9 0.999 0.900 D 1.077 D 0.966 D 0.707 0 4.73 0.871 0.935 0.996 0.919 14.938 Deleterious
1676 17 70175692 G A Pathogenic KCNJ2 . . . . . . . . . . 17 70175692 70175692 G A exonic KCNJ2 . nonsynonymous SNV KCNJ2:NM_000891:exon2:c.G653A:p.R218Q 17q24.3 . rs199473384 0.0 D 1.0 D 0.999 D 0.000 D 1 D 2.895 M -4.17 D -3.83 D 0.969 6.352 29.4 0.999 0.992 D 1.065 D 0.947 D 0.707 0 5.76 0.917 1.048 0.995 0.910 19.966 Deleterious
1677 17 75522000 G T Pathogenic TSEN54 . . . . . . . . . . 17 75522000 75522000 G T exonic TSEN54 . nonsynonymous SNV TSEN54:NM_207346:exon8:c.G919T:p.A307S 17q25.1 0.0009 rs113994152 0.024 D 0.997 D 0.876 P 0.000 D 0.988 A 1.995 M -0.26 T -0.76 N 0.729 5.311 25.8 0.975 0.967 D -0.205 T 0.425 T 0.706 0 5.14 0.917 0.940 0.944 0.997 18.603 Tolerated
1678 17 75836338 G A Pathogenic/Likely pathogenic UNC13D . . . . . . . . . . 17 75836338 75836338 G A splicing UNC13D NM_199242:exon15:c.1389+1C>T . . 17q25.1 . . . . . . . . . . 1 D . . . . . . . 3.885 23.5 0.989 0.993 D . . . . 0.257 0 4.34 0.871 0.852 0.048 0.059 17.021 Deleterious (FATHMM)
1679 17 75840506 G T Pathogenic UNC13D . . . . . . . . . . 17 75840506 75840506 G T splicing UNC13D NM_199242:exon9:c.753+1C>A . . 17q25.1 . . . . . . . . . . 1 D . . . . . . . 4.844 24.8 0.990 0.973 D . . . . 0.284 0 3.02 0.871 0.843 0.913 0.936 13.483 Deleterious (FATHMM)
1680 17 80104542 T G Pathogenic GAA . . . . . . . . . . 17 80104542 80104542 T G intronic GAA . . . 17q25.3 0.0042 rs386834236 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . probably Tolerated (Intron)
1681 17 80104893 T G Pathogenic GAA . . . . . . . . . . 17 80104893 80104893 T G exonic GAA . nonsynonymous SNV GAA:NM_000152:exon2:c.T307G:p.C103G,GAA:NM_001079804:exon2:c.T307G:p.C103G,GAA:NM_001079803:exon3:c.T307G:p.C103G 17q25.3 . rs398123174 0.0 D 1.0 D 1.0 D 0.000 D 1.000 D 3.755 H -3.46 D -10.77 D 0.972 4.266 23.9 0.979 0.978 D 1.095 D 0.946 D 0.696 0 4.94 0.991 0.964 0.997 0.394 13.567 Deleterious
1682 17 80105857 G A Pathogenic/Likely pathogenic GAA . . . . . . . . . . 17 80105857 80105857 G A exonic GAA . nonsynonymous SNV GAA:NM_000152:exon3:c.G655A:p.G219R,GAA:NM_001079804:exon3:c.G655A:p.G219R,GAA:NM_001079803:exon4:c.G655A:p.G219R 17q25.3 7.7e-05 rs370950728 0.026 D 1.0 D 0.984 D 0.000 D 1.000 D 2.82 M -1.84 D -6.08 D 0.949 6.030 28.0 0.999 0.986 D 0.720 D 0.785 D 0.696 0 5.15 0.917 0.953 0.195 0.700 18.208 Deleterious
1683 17 80110837 G A Pathogenic/Likely pathogenic GAA . . . . . . . . . . 17 80110837 80110837 G A exonic GAA . stopgain GAA:NM_000152:exon10:c.G1548A:p.W516X,GAA:NM_001079804:exon10:c.G1548A:p.W516X,GAA:NM_001079803:exon11:c.G1548A:p.W516X 17q25.3 7.7e-05 rs140826989 . . . . . . 0.000 D 1 A . . . . . . . 11.587 37 0.997 0.991 D . . . . 0.706 0 4.4 0.917 1.045 0.994 0.952 13.582 Deleterious (FATHMM)
1684 17 80112001 T C Pathogenic GAA . . . . . . . . . . 17 80112001 80112001 T C exonic GAA . nonsynonymous SNV GAA:NM_000152:exon12:c.T1655C:p.L552P,GAA:NM_001079804:exon12:c.T1655C:p.L552P,GAA:NM_001079803:exon13:c.T1655C:p.L552P 17q25.3 . rs779556619 0.0 D 1.0 D 0.995 D 0.000 D 1 D 3.78 H -3.03 D -6.43 D 0.962 5.348 25.9 0.999 0.967 D 1.048 D 0.908 D 0.713 0 4.65 0.991 0.964 0.941 0.420 13.720 Deleterious
1685 17 80112966 G A Pathogenic/Likely pathogenic GAA . . . . . . . . . . 17 80112966 80112966 G A exonic GAA . nonsynonymous SNV GAA:NM_000152:exon14:c.G1979A:p.R660H,GAA:NM_001079804:exon14:c.G1979A:p.R660H,GAA:NM_001079803:exon15:c.G1979A:p.R660H 17q25.3 7.7e-05 rs374143224 0.0 D 1.0 D 1.0 D 0.000 D 1.000 D 4.065 H -4.37 D -4.91 D 0.965 7.584 34 1.000 0.992 D 1.089 D 0.968 D 0.742 0 4.69 0.917 0.949 1.000 1.000 17.227 Deleterious
1686 17 80113001 C T Pathogenic/Likely pathogenic GAA . . . . . . . . . . 17 80113001 80113001 C T exonic GAA . nonsynonymous SNV GAA:NM_000152:exon14:c.C2014T:p.R672W,GAA:NM_001079804:exon14:c.C2014T:p.R672W,GAA:NM_001079803:exon15:c.C2014T:p.R672W 17q25.3 . rs757111744 0.0 D 1.0 D 1.0 D 0.000 D 1.000 D 4.26 H -3.69 D -7.86 D 0.94 7.336 34 0.999 0.850 D 0.993 D 0.945 D 0.706 0 2.45 0.871 0.848 1.000 0.999 8.356 Deleterious
1687 17 80117016 G C Pathogenic GAA . . . . . . . . . . 17 80117016 80117016 G C exonic GAA . nonsynonymous SNV GAA:NM_000152:exon16:c.G2238C:p.W746C,GAA:NM_001079804:exon16:c.G2238C:p.W746C,GAA:NM_001079803:exon17:c.G2238C:p.W746C 17q25.3 0.0003 rs1800312 0.001 D 1.0 D 1.0 D 0.000 D 1 D 2.56 M -2.92 D -12.54 D 0.973 6.872 33 0.992 0.994 D 0.957 D 0.876 D 0.718 0 5.1 0.917 0.902 0.996 0.991 18.084 Deleterious
1688 17 80118271 C T Pathogenic GAA . . . . . . . . . . 17 80118271 80118271 C T exonic GAA . stopgain GAA:NM_000152:exon18:c.C2560T:p.R854X,GAA:NM_001079804:exon18:c.C2560T:p.R854X,GAA:NM_001079803:exon19:c.C2560T:p.R854X 17q25.3 0.0008 rs121907943 . . . . . . 0.700 N 1 A . . . . . . . 11.778 38 0.993 0.108 N . . . . 0.706 0 3.52 -1.490 0.021 0.010 0.021 10.955 Deleterious (DANN)
1689 17 80212128 T C Pathogenic SGSH . . . . . . . . . . 17 80212128 80212128 T C exonic SGSH . nonsynonymous SNV SGSH:NM_000199:exon7:c.T892G:p.S298A 17q25.3 . . 0.085 T 0.998 D 0.977 D 0.000 D 1 D 1.58 L -3.94 D -2.33 N 0.622 3.370 22.9 0.995 0.997 D 0.692 D 0.859 D 0.707 0 4.62 1.062 1.088 0.403 0.354 13.661 Deleterious
1690 17 80213815 G A Pathogenic SGSH . . . . . . . . . . 17 80213815 80213815 G A exonic SGSH . nonsynonymous SNV SGSH:NM_000199:exon6:c.G734T:p.R245L 17q25.3 . . 0.0 D 0.994 D 0.978 D 0.000 D 1 D 2.09 M -5.02 D -6.2 D 0.972 7.429 34 0.958 0.995 D 1.038 D 0.948 D 0.707 0 4.47 0.871 0.852 0.993 0.985 15.085 Deleterious
1691 17 80217061 C T Pathogenic SGSH . . . . . . . . . . 17 80217061 80217061 C T exonic SGSH . nonsynonymous SNV SGSH:NM_000199:exon2:c.C220A:p.R74S 17q25.3 . . 0.0 D 1.0 D 1.0 D 0.000 D 1 D 4.465 H -4.76 D -5.7 D 0.859 6.795 32 0.998 0.942 D 1.041 D 0.977 D 0.651 0 3.74 0.866 0.953 0.989 0.971 11.034 Deleterious
1692 17 80217084 C G Pathogenic SGSH . . . . . . . . . . 17 80217084 80217084 C G exonic SGSH . synonymous SNV SGSH:NM_000199:exon2:c.C197C:p.S66S 17q25.3 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
1693 18 23533495 C A Pathogenic/Likely pathogenic NPC1 . . . . . . . . . . 18 23533495 23533495 C A exonic NPC1 . nonsynonymous SNV NPC1:NM_000271:exon24:c.C3614T:p.T1205I 18q11.2 . . 0.0 D 1.0 D 1.0 D 0.000 D 1 D 3.76 H -3.31 D -5.43 D 0.98 6.532 31 0.999 0.980 D 1.080 D 0.934 D 0.707 0 5.54 0.830 0.949 0.999 0.996 19.485 Deleterious
1694 18 23536736 T C Pathogenic NPC1 . . . . . . . . . . 18 23536736 23536736 T C exonic NPC1 . nonsynonymous SNV NPC1:NM_000271:exon21:c.T3182G:p.I1061R 18q11.2 . . 0.0 D 0.934 P 0.948 D 0.175 N 1.000 D 2.55 M -2.48 D -5.85 D 0.718 5.163 25.5 0.988 0.994 D 0.789 D 0.828 D 0.707 0 6.04 0.960 1.199 0.553 0.484 16.576 Deleterious
1695 18 23538564 C G Pathogenic NPC1 . . . . . . . . . . 18 23538564 23538564 C G exonic NPC1 . synonymous SNV NPC1:NM_000271:exon20:c.C3019C:p.P1007P 18q11.2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
1696 18 23538609 G C Pathogenic/Likely pathogenic NPC1 . . . . . . . . . . 18 23538609 23538609 G C exonic NPC1 . synonymous SNV NPC1:NM_000271:exon20:c.G2974G:p.G992G 18q11.2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
1697 18 23539405 C T Pathogenic/Likely pathogenic NPC1 . . . . . . . . . . 18 23539405 23539405 C T exonic NPC1 . stopgain NPC1:NM_000271:exon19:c.C2861A:p.S954X 18q11.2 . . . . . . . . 0.000 D 1 A . . . . . . . 13.406 42 0.994 0.981 D . . . . 0.722 0 5.25 0.830 1.048 0.098 0.048 19.210 Deleterious (FATHMM)
1698 18 23539418 G A Pathogenic/Likely pathogenic NPC1 . . . . . . . . . . 18 23539418 23539418 G A exonic NPC1 . nonsynonymous SNV NPC1:NM_000271:exon19:c.G2848T:p.V950L 18q11.2 . . 0.19 T 0.0 B 0.001 B 0.002 N 1.000 D 0.04 N -2.41 D -0.99 N 0.486 2.270 17.97 0.964 0.884 D -0.717 T 0.328 T 0.722 0 0.33 -0.024 0.935 0.540 0.726 10.369 Tolerated
1699 18 23551653 C T Pathogenic/Likely pathogenic NPC1 . . . . . . . . . . 18 23551653 23551653 C T exonic NPC1 . nonsynonymous SNV NPC1:NM_000271:exon10:c.C1628A:p.P543Q 18q11.2 . . 0.0 D 1.0 D 0.999 D 0.000 D 1 D 3.465 M -3.76 D -7.69 D 0.898 6.294 29.1 0.993 0.998 D 1.086 D 0.949 D 0.707 0 5.67 0.830 1.048 0.993 0.964 19.770 Deleterious
1700 18 23554758 G A Pathogenic/Likely pathogenic NPC1 . . . . . . . . . . 18 23554758 23554758 G A exonic NPC1 . nonsynonymous SNV NPC1:NM_000271:exon9:c.G1553T:p.R518L 18q11.2 . . 0.104 T 0.618 P 0.219 B 0.000 D 1 D 2.34 M -2.36 D -3.36 D 0.872 5.708 26.8 0.996 0.981 D 0.480 D 0.737 D 0.707 0 4.58 0.791 0.932 0.911 0.995 12.248 Deleterious
1701 18 23556358 G A Pathogenic/Likely pathogenic NPC1 . . . . . . . . . . 18 23556358 23556358 G A exonic NPC1 . nonsynonymous SNV NPC1:NM_000271:exon8:c.G1211T:p.R404L 18q11.2 . . 0.0 D 1.0 D 1.0 D 0.000 N 1 D 3.51 H -2.37 D -6.97 D 0.678 7.647 35 0.999 0.995 D 0.995 D 0.872 D 0.719 0 4.79 0.791 0.935 0.973 0.958 16.305 Deleterious
1702 18 31086672 C G Pathogenic/Likely pathogenic DSC2 . . . . . . . . . . 18 31086672 31086672 C G exonic DSC2 . synonymous SNV DSC2:NM_004949:exon7:c.C846C:p.Y282Y,DSC2:NM_024422:exon7:c.C846C:p.Y282Y 18q12.1 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
1703 18 31087781 T A Pathogenic/Likely pathogenic DSC2 . . . . . . . . . . 18 31087781 31087781 T A exonic DSC2 . synonymous SNV DSC2:NM_004949:exon6:c.T663T:p.Y221Y,DSC2:NM_024422:exon6:c.T663T:p.Y221Y 18q12.1 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
1704 18 31087815 A G Pathogenic/Likely pathogenic DSC2 . . . . . . . . . . 18 31087815 31087815 A G splicing DSC2 NM_004949:exon6:c.631-2T>C,NM_024422:exon6:c.631-2T>C . . 18q12.1 . . . . . . . . . . 1 D . . . . . . . 3.065 22.4 0.975 0.988 D . . . . 0.099 0 4.9 0.991 1.061 0.840 0.023 13.648 Deleterious (FATHMM)
1705 18 31519858 G A Pathogenic/Likely pathogenic DSG2 . . . . . . . . . . 18 31519858 31519858 G A exonic DSG2 . nonsynonymous SNV DSG2:NM_001943:exon3:c.G137A:p.R46Q 18q12.1 . rs121913008 0.0 D 1.0 D 0.998 D 0.003 U 0.101 A 3.505 H -0.68 T -3.53 D 0.89 6.317 29.2 0.971 0.952 D 0.278 D 0.730 D 0.707 0 5.21 0.917 1.048 0.680 0.291 17.299 Deleterious
1706 18 31519867 G A Pathogenic/Likely pathogenic DSG2 . . . . . . . . . . 18 31519867 31519867 G A exonic DSG2 . nonsynonymous SNV DSG2:NM_001943:exon3:c.G146A:p.R49H 18q12.1 . rs121913006 0.0 D 1.0 D 0.997 D 0.003 U 0.971 A 3.495 M -0.87 T -4.66 D 0.921 6.694 32 0.975 0.969 D 0.777 D 0.758 D 0.707 0 5.21 0.917 1.048 0.683 0.249 17.299 Deleterious
1707 18 31521245 T C Pathogenic/Likely pathogenic DSG2 . . . . . . . . . . 18 31521245 31521245 T C splicing DSG2 NM_001943:exon5:c.523+2T>C . . 18q12.1 . rs397516709 . . . . . . . . 1 D . . . . . . . 3.390 23.0 0.986 0.988 D . . . . 0.099 0 5.62 0.991 1.061 0.815 0.837 15.816 Deleterious (FATHMM)
1708 18 31541191 A G Pathogenic/Likely pathogenic DSG2 . . . . . . . . . . 18 31541191 31541191 A G splicing DSG2 NM_001943:exon13:c.1880-2A>G . . 18q12.1 . rs397514038 . . . . . . . . 1 D . . . . . . . 3.231 22.8 0.986 0.988 D . . . . 0.295 0 5.77 1.062 1.199 0.813 0.037 15.562 Deleterious (FATHMM)
1709 18 31592974 G A Pathogenic TTR . . . . . . . . . . 18 31592974 31592974 G A exonic TTR . nonsynonymous SNV TTR:NM_000371:exon2:c.G148A:p.V50M 18q12.1 . rs28933979 0.025 D 0.999 D 0.969 D 0.000 D 1.000 D 3.305 M -4.42 D -1.57 N 0.919 5.083 25.3 0.999 0.738 D 1.085 D 0.961 D 0.447 0 5.71 0.917 1.048 0.856 0.395 19.820 Deleterious
1710 18 31595129 T A Pathogenic/Likely pathogenic TTR . . . . . . . . . . 18 31595129 31595129 T A exonic TTR . nonsynonymous SNV TTR:NM_000371:exon3:c.T210A:p.S70R 18q12.1 . rs121918076 0.009 D 0.946 P 0.667 P 0.002 N 1.000 N 1.87 L -3.72 D -1.91 N 0.889 4.615 24.5 0.995 0.114 N 0.158 D 0.777 D 0.554 0 -1.24 -1.070 -0.416 0.545 0.805 0.987 Deleterious
1711 18 31595157 A G Pathogenic/Likely pathogenic TTR . . . . . . . . . . 18 31595157 31595157 A G exonic TTR . nonsynonymous SNV TTR:NM_000371:exon3:c.A238G:p.T80A 18q12.1 . rs121918070 0.062 T 0.148 B 0.061 B 0.000 D 1 A 1.76 L -3.8 D -2.83 D 0.898 2.355 18.53 0.984 0.698 D 0.687 D 0.797 D 0.554 0 5.54 1.062 1.088 0.973 0.424 15.632 Deleterious
1712 18 31598655 G A Pathogenic TTR . . . . . . . . . . 18 31598655 31598655 G A exonic TTR . nonsynonymous SNV TTR:NM_000371:exon4:c.G424A:p.V142I 18q12.1 0.0059 rs76992529 0.023 D 1.0 D 0.99 D 0.000 N 1.000 A 2.93 M -3.78 D -0.48 N 0.591 2.984 22.2 0.998 0.916 D 0.758 D 0.863 D 0.487 0 4.31 0.917 -0.273 0.740 0.003 12.758 Deleterious
1713 18 33743197 C T Pathogenic/Likely pathogenic ASXL3 . . . . . . . . . . 18 33743197 33743197 C T exonic ASXL3 . stopgain ASXL3:NM_030632:exon12:c.C3349T:p.R1117X 18q12.1 . rs868044680 . . . . . . 0.057 N 1 D . . . . . . . 11.366 37 0.998 0.573 D . . . . 0.549 0 1.52 -0.662 0.018 0.933 0.985 15.691 Deleterious (FATHMM)
1714 18 44951952 T C Pathogenic SETBP1 . . . . . . . . . . 18 44951952 44951952 T C exonic SETBP1 . nonsynonymous SNV SETBP1:NM_015559:exon4:c.T2612C:p.I871T 18q12.3 . rs267607038 0.0 D 1.0 D 0.997 D 0.000 D 1.000 D 0.975 L -2.71 D -4.75 D 0.981 4.522 24.3 0.997 0.987 D 0.703 D 0.772 D 0.554 0 6.17 0.991 1.061 0.998 0.988 16.822 Deleterious
1715 18 46529227 C T Pathogenic/Likely pathogenic LOXHD1 . . . . . . . . . . 18 46529227 46529227 C T exonic LOXHD1 . synonymous SNV LOXHD1:NM_001308013:exon9:c.C859A:p.R287R,LOXHD1:NM_001145472:exon11:c.C1147A:p.R383R,LOXHD1:NM_144612:exon29:c.C4480A:p.R1494R 18q21.1 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
1716 18 51065548 C T Pathogenic SMAD4 . . . . . . . . . . 18 51065548 51065548 C T exonic SMAD4 . nonsynonymous SNV SMAD4:NM_005359:exon9:c.C1081T:p.R361C 18q21.2 . rs80338963 0.0 D 1.0 D 1.0 D 0.000 D 1 A 3.485 M -4.76 D -7.82 D 0.997 7.642 35 0.999 0.957 D 1.086 D 0.975 D 0.707 0 5.86 0.871 0.852 1.000 1.000 18.965 Deleterious
1717 18 55228993 G A Pathogenic TCF4 . . . . . . . . . . 18 55228993 55228993 G A exonic TCF4 . nonsynonymous SNV TCF4:NM_001243234:exon11:c.G1253T:p.R418L,TCF4:NM_001243235:exon11:c.G1241T:p.R414L,TCF4:NM_001243236:exon11:c.G1241T:p.R414L,TCF4:NM_001243232:exon14:c.G1520T:p.R507L,TCF4:NM_001243233:exon14:c.G1331T:p.R444L,TCF4:NM_001306208:exon14:c.G1508T:p.R503L,TCF4:NM_001243231:exon16:c.G1595T:p.R532L,TCF4:NM_001243227:exon17:c.G1661T:p.R554L,TCF4:NM_001243230:exon17:c.G1712T:p.R571L,TCF4:NM_001306207:exon17:c.G1649T:p.R550L,TCF4:NM_001083962:exon18:c.G1733T:p.R578L,TCF4:NM_001243228:exon18:c.G1751T:p.R584L,TCF4:NM_003199:exon18:c.G1721T:p.R574L,TCF4:NM_001243226:exon19:c.G2039T:p.R680L 18q21.2 . . 0.001 D 1.0 D 0.998 D 0.000 D 1 D 3.375 M -5.35 D -6.53 D 0.991 8.349 35 0.999 0.974 D 1.069 D 0.982 D 0.672 0 5.89 0.871 0.932 0.999 0.976 19.028 Deleterious
1718 18 55254694 C T Pathogenic TCF4 . . . . . . . . . . 18 55254694 55254694 C T exonic TCF4 . synonymous SNV TCF4:NM_001243234:exon8:c.C673A:p.R225R,TCF4:NM_001243235:exon8:c.C673A:p.R225R,TCF4:NM_001243236:exon8:c.C673A:p.R225R,TCF4:NM_001243232:exon11:c.C940A:p.R314R,TCF4:NM_001243233:exon11:c.C763A:p.R255R,TCF4:NM_001306208:exon11:c.C940A:p.R314R,TCF4:NM_001243231:exon13:c.C1027A:p.R343R,TCF4:NM_001243227:exon14:c.C1081A:p.R361R,TCF4:NM_001243230:exon14:c.C1144A:p.R382R,TCF4:NM_001306207:exon14:c.C1081A:p.R361R,TCF4:NM_001083962:exon15:c.C1153A:p.R385R,TCF4:NM_001243228:exon15:c.C1171A:p.R391R,TCF4:NM_003199:exon15:c.C1153A:p.R385R,TCF4:NM_001243226:exon16:c.C1459A:p.R487R 18q21.2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
1719 19 1220488 G A Pathogenic/Likely pathogenic STK11 . . . . . . . . . . 19 1220488 1220488 G A exonic STK11 . nonsynonymous SNV STK11:NM_000455:exon4:c.G580A:p.D194N 19p13.3 . rs121913315 0.0 D 1.0 D 1.0 D 0.000 D 1 D 4.165 H -3.14 D -5.0 D 0.387 6.365 29.4 0.999 0.973 D 1.085 D 0.929 D 0.713 0 5.56 0.917 1.048 0.948 0.983 18.579 Deleterious
1720 19 1221996 C T Pathogenic STK11 . . . . . . . . . . 19 1221996 1221996 C T exonic STK11 . nonsynonymous SNV STK11:NM_000455:exon7:c.C910T:p.R304W 19p13.3 . rs786201090 0.001 D 1.0 D 0.996 D 0.000 D 1 D 1.6 L -1.67 D -5.59 D 0.922 7.381 34 0.999 0.832 D 0.107 D 0.596 D 0.713 0 -2.25 -0.639 -0.131 0.141 0.988 14.716 Deleterious
1721 19 1398964 G A Pathogenic GAMT . . . . . . . . . . 19 1398964 1398964 G A exonic GAMT . nonsynonymous SNV GAMT:NM_000156:exon5:c.G522T:p.W174C,GAMT:NM_138924:exon5:c.G522T:p.W174C 19p13.3 . . 0.011 D 1.0 D 0.99 D 0.000 D 1 D 2.19 M -2.48 D -3.62 D 0.877 7.140 34 0.994 0.980 D 0.581 D 0.776 D 0.635 0 3.96 0.871 0.783 1.000 1.000 13.56 Deleterious
1722 19 1399793 G A Pathogenic GAMT . . . . . . . . . . 19 1399793 1399793 G A exonic GAMT . nonsynonymous SNV GAMT:NM_000156:exon2:c.G327T:p.K109N,GAMT:NM_138924:exon2:c.G327T:p.K109N 19p13.3 . . 0.306 T 0.3 B 0.14 B 0.000 D 1 D 0.335 N -2.16 D -1.8 N 0.157 2.651 20.5 0.992 0.981 D -0.400 T 0.398 T 0.706 0 4.18 0.871 0.859 0.807 0.089 14.032 Tolerated
1723 19 4101105 G A Pathogenic/Likely pathogenic MAP2K2 . . . . . . . . . . 19 4101105 4101105 G A exonic MAP2K2 . stopgain MAP2K2:NM_030662:exon6:c.G619T:p.E207X 19p13.3 . . . . . . . . 0.000 D 1 A . . . . . . . 11.670 38 0.997 0.985 D . . . . 0.707 0 4.22 0.871 0.848 0.886 0.930 15.189 Deleterious (FATHMM)
1724 19 4110559 T C Pathogenic/Likely pathogenic MAP2K2 . . . . . . . . . . 19 4110559 4110559 T C exonic MAP2K2 . nonsynonymous SNV MAP2K2:NM_030662:exon3:c.T400G:p.Y134D 19p13.3 . . 0.0 D 1.0 D 0.994 D 0.000 D 1 D 3.21 M -3.22 D -8.25 D 0.992 6.088 28.2 0.994 0.965 D 1.038 D 0.908 D 0.722 0 5.3 1.003 1.083 0.999 1.000 14.056 Deleterious
1725 19 4117541 A G Pathogenic/Likely pathogenic MAP2K2 . . . . . . . . . . 19 4117541 4117541 A G exonic MAP2K2 . nonsynonymous SNV MAP2K2:NM_030662:exon2:c.A181C:p.K61Q 19p13.3 . . 0.0 D 1.0 D 0.999 D 0.000 D 1 D 2.415 M -3.21 D -3.54 D 0.491 5.835 27.2 0.995 0.989 D 0.926 D 0.873 D 0.672 0 4.14 0.938 0.964 0.998 1.000 12.153 Deleterious
1726 19 6495736 G A Pathogenic/Likely pathogenic TUBB4A . . . . . . . . . . 19 6495736 6495736 G A exonic TUBB4A . nonsynonymous SNV TUBB4A:NM_001289130:exon4:c.G547T:p.V183F,TUBB4A:NM_001289131:exon4:c.G547T:p.V183F,TUBB4A:NM_006087:exon4:c.G763T:p.V255F,TUBB4A:NM_001289123:exon5:c.G916T:p.V306F,TUBB4A:NM_001289127:exon5:c.G898T:p.V300F,TUBB4A:NM_001289129:exon5:c.G763T:p.V255F 19p13.3 . rs767399782 . . 1.0 D 0.974 D 0.000 D 1.000 D 4.11 H -0.89 T -4.2 D 0.778 6.134 28.4 0.984 0.966 D 0.966 D 0.838 D 0.696 0 3.95 0.871 0.802 0.986 0.909 14.813 Deleterious
1727 19 10155017 A G Pathogenic/Likely pathogenic DNMT1 . . . . . . . . . . 19 10155017 10155017 A G exonic DNMT1 . nonsynonymous SNV DNMT1:NM_001379:exon19:c.A1484C:p.Y495S,DNMT1:NM_001130823:exon20:c.A1532C:p.Y511S 19p13.2 . . 0.0 D 1.0 D 0.997 D 0.000 D 1 D 2.81 M -3.33 D -8.11 D 0.981 5.411 26.0 0.991 0.984 D 1.015 D 0.904 D 0.707 0 6.08 0.991 1.061 0.305 0.120 15.626 Deleterious
1728 19 10793799 G A Pathogenic/Likely pathogenic DNM2 . . . . . . . . . . 19 10793799 10793799 G A exonic DNM2 . nonsynonymous SNV DNM2:NM_001005360:exon8:c.G1072A:p.G358R,DNM2:NM_001005361:exon8:c.G1072A:p.G358R,DNM2:NM_001005362:exon8:c.G1072A:p.G358R,DNM2:NM_001190716:exon8:c.G1072A:p.G358R,DNM2:NM_004945:exon8:c.G1072A:p.G358R 19p13.2 . rs267606772 0.001 D 1.0 D 0.992 D 0.000 D 1 D 3.485 M -1.09 T -6.46 D 0.981 7.292 34 0.999 0.994 D 0.684 D 0.714 D 0.707 0 4.79 0.917 0.953 0.960 0.993 16.623 Deleterious
1729 19 10793829 G A Pathogenic DNM2 . . . . . . . . . . 19 10793829 10793829 G A exonic DNM2 . nonsynonymous SNV DNM2:NM_001005360:exon8:c.G1102A:p.E368K,DNM2:NM_001005361:exon8:c.G1102A:p.E368K,DNM2:NM_001005362:exon8:c.G1102A:p.E368K,DNM2:NM_001190716:exon8:c.G1102A:p.E368K,DNM2:NM_004945:exon8:c.G1102A:p.E368K 19p13.2 . rs121909092 0.002 D 0.998 D 0.889 P 0.000 D 1 A 3.055 M -0.85 T -3.63 D 0.976 7.358 34 0.999 0.995 D 0.451 D 0.619 D 0.707 0 4.93 0.917 0.953 0.978 0.989 16.946 Deleterious
1730 19 10798543 C T Pathogenic DNM2 . . . . . . . . . . 19 10798543 10798543 C T exonic DNM2 . nonsynonymous SNV DNM2:NM_001005360:exon11:c.C1393T:p.R465W,DNM2:NM_001005361:exon11:c.C1393T:p.R465W,DNM2:NM_001005362:exon11:c.C1393T:p.R465W,DNM2:NM_001190716:exon11:c.C1393T:p.R465W,DNM2:NM_004945:exon11:c.C1393T:p.R465W 19p13.2 . rs121909091 0.0 D 1.0 D 0.999 D 0.000 D 1.000 A 3.875 H -0.88 T -7.16 D 0.96 7.553 34 0.999 0.952 D 0.620 D 0.668 D 0.707 0 2.26 -0.662 -0.035 0.994 0.995 10.982 Deleterious
1731 19 10812271 G A Pathogenic DNM2 . . . . . . . . . . 19 10812271 10812271 G A exonic DNM2 . nonsynonymous SNV DNM2:NM_001005362:exon14:c.G1553A:p.R518H,DNM2:NM_004945:exon14:c.G1553A:p.R518H,DNM2:NM_001005360:exon15:c.G1565A:p.R522H,DNM2:NM_001005361:exon15:c.G1565A:p.R522H,DNM2:NM_001190716:exon15:c.G1565A:p.R522H 19p13.2 . rs587783595 0.001 D 1.0 D 0.994 D 0.000 D 1 D 3.335 M -0.99 T -4.39 D 0.914 7.561 34 0.999 0.975 D 0.561 D 0.673 D 0.722 0 5.26 0.917 1.048 0.999 0.999 17.663 Deleterious
1732 19 10823886 C G Pathogenic/Likely pathogenic DNM2 . . . . . . . . . . 19 10823886 10823886 C G exonic DNM2 . nonsynonymous SNV DNM2:NM_001005362:exon16:c.C1868G:p.P623R,DNM2:NM_004945:exon16:c.C1868G:p.P623R,DNM2:NM_001005360:exon17:c.C1880G:p.P627R,DNM2:NM_001005361:exon17:c.C1880G:p.P627R,DNM2:NM_001190716:exon17:c.C1880G:p.P627R 19p13.2 . rs587783598 0.004 D 0.998 D 0.982 D 0.000 D 1 D 3.165 M -3.46 D -7.72 D 0.948 5.724 26.9 0.997 0.988 D 1.077 D 0.926 D 0.719 0 4.92 0.871 0.774 0.990 0.953 16.912 Deleterious
1733 19 11089560 G A Pathogenic LDLR . . . . . . . . . . 19 11089560 11089560 G A exonic LDLR . stopgain LDLR:NM_000527:exon1:c.G12A:p.W4X,LDLR:NM_001195798:exon1:c.G12A:p.W4X,LDLR:NM_001195799:exon1:c.G12A:p.W4X,LDLR:NM_001195800:exon1:c.G12A:p.W4X,LDLR:NM_001195803:exon1:c.G12A:p.W4X 19p13.2 . rs756039188 . . . . . . 0.054 U 1 A . . . . . . . 5.110 25.3 0.933 0.906 D . . . . 0.442 0 -2.02 0.630 -0.943 0.002 0.000 6.549 Deleterious (FATHMM)
1734 19 11100236 C G Pathogenic/Likely pathogenic LDLR . . . . . . . . . . 19 11100236 11100236 C G exonic LDLR . nonsynonymous SNV LDLR:NM_000527:exon2:c.C81G:p.C27W,LDLR:NM_001195798:exon2:c.C81G:p.C27W,LDLR:NM_001195799:exon2:c.C81G:p.C27W,LDLR:NM_001195800:exon2:c.C81G:p.C27W,LDLR:NM_001195803:exon2:c.C81G:p.C27W 19p13.2 . rs2228671 0.001 D 1.0 D 1.0 D 0.000 D 1 D 4.295 H -5.89 D -8.36 D 0.915 4.854 24.9 0.985 0.372 N 1.103 D 0.987 D 0.646 0 -1.69 -2.004 -0.641 0.018 0.010 12.726 Deleterious
675 8 89947835 A T Pathogenic NBN . . . . . . . . . . 8 89947835 89947835 A T exonic NBN . synonymous SNV NBN:NM_002485:exon12:c.A1903A:p.K635K,NBN:NM_001024688:exon13:c.A1657A:p.K553K 8q21.3 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
676 8 89953342 C T Pathogenic NBN . . . . . . . . . . 8 89953342 89953342 C T exonic NBN . nonsynonymous SNV NBN:NM_002485:exon11:c.C1747A:p.Q583K,NBN:NM_001024688:exon12:c.C1501A:p.Q501K 8q21.3 . . 0.033 D 0.981 D 0.651 P 0.929 N 1 N 0.805 L 2.06 T -1.0 N 0.088 1.408 12.83 0.976 0.236 N -0.956 T 0.180 T 0.732 0 3.45 0.917 1.048 0.163 0.992 8.264 Tolerated
677 8 93765617 A T Pathogenic TMEM67 . . . . . . . . . . 8 93765617 93765617 A T exonic TMEM67 . stopgain TMEM67:NM_153704:exon6:c.A622T:p.R208X,TMEM67:NM_001142301:exon7:c.A379T:p.R127X 8q22.1 7.7e-05 rs137853108 . . . . . . 0.668 N 1 A . . . . . . . 6.882 33 0.968 0.037 N . . . . 0.615 0 -3.99 -1.071 -0.087 0.193 0.925 8.969 Deleterious (DANN)
678 8 93780603 A G Pathogenic/Likely pathogenic TMEM67 . . . . . . . . . . 8 93780603 93780603 A G exonic TMEM67 . nonsynonymous SNV TMEM67:NM_153704:exon8:c.A725G:p.N242S,TMEM67:NM_001142301:exon9:c.A482G:p.N161S 8q22.1 . rs775883520 0.009 D 1.0 D 0.997 D 0.000 D 1 D 1.805 L -4.25 D -3.65 D 0.274 5.451 26.1 0.999 0.998 D 1.073 D 0.932 D 0.651 0 5.84 1.062 1.088 0.496 0.940 16.221 Deleterious
679 8 93781725 T C Pathogenic/Likely pathogenic TMEM67 . . . . . . . . . . 8 93781725 93781725 T C exonic TMEM67 . nonsynonymous SNV TMEM67:NM_153704:exon10:c.T1046C:p.L349S,TMEM67:NM_001142301:exon11:c.T803C:p.L268S 8q22.1 . rs386834180 0.004 D 0.973 D 0.9 P 0.005 N 1.000 D 1.49 L -4.66 D -2.51 D 0.873 6.268 29.0 0.999 0.989 D 1.063 D 0.926 D 0.651 0 5.73 0.991 0.964 0.996 0.999 14.604 Deleterious
680 8 93787842 A G Pathogenic/Likely pathogenic TMEM67 . . . . . . . . . . 8 93787842 93787842 A G splicing TMEM67 NM_001142301:exon15:c.1170-2A>G,NM_153704:exon14:c.1413-2A>G . . 8q22.1 . rs786205608 . . . . . . . . 1 D . . . . . . . 3.623 23.2 0.990 0.992 D . . . . 0.106 0 5.59 1.062 1.088 0.946 0.954 15.439 Deleterious (FATHMM)
681 8 93795970 T C Pathogenic TMEM67 . . . . . . . . . . 8 93795970 93795970 T C exonic TMEM67 . nonsynonymous SNV TMEM67:NM_153704:exon18:c.T1843C:p.C615R,TMEM67:NM_001142301:exon19:c.T1600C:p.C534R 8q22.1 . rs201893408 0.008 D 0.99 D 0.848 P 0.000 D 1 A 1.61 L -4.15 D -5.04 D 0.973 6.182 28.6 0.997 0.985 D 1.026 D 0.893 D 0.651 0 5.28 0.991 0.993 0.997 1.000 15.504 Deleterious
682 8 99384272 G A Pathogenic/Likely pathogenic VPS13B . . . . . . . . . . 8 99384272 99384272 G A exonic VPS13B . stopgain VPS13B:NM_017890:exon20:c.G2889A:p.W963X,VPS13B:NM_152564:exon20:c.G2889A:p.W963X 8q22.2 . rs386834078 . . . . . . 0.000 D 1 A . . . . . . . 12.691 40 0.994 0.985 D . . . . 0.615 0 5.37 0.917 0.998 0.813 0.736 19.099 Deleterious (FATHMM)
683 8 132180246 C T Pathogenic/Likely pathogenic KCNQ3 . . . . . . . . . . 8 132180246 132180246 C T exonic KCNQ3 . nonsynonymous SNV KCNQ3:NM_001204824:exon4:c.C328A:p.R110S,KCNQ3:NM_004519:exon4:c.C688A:p.R230S 8q24.22 . . 0.0 D 1.0 D 0.999 D 0.000 D 1.000 D 2.99 M -5.0 D -5.6 D 0.992 6.736 32 0.996 0.953 D 1.100 D 0.970 D 0.638 0 5.52 0.917 1.048 0.974 1.000 18.410 Deleterious
684 8 132882609 C T Pathogenic TG . . . . . . . . . . 8 132882609 132882609 C T exonic TG . stopgain TG:NM_003235:exon7:c.C886T:p.R296X 8q24.22 0.0006 rs121912648 . . . . . . 0.000 D 1 A . . . . . . . 11.570 37 0.998 0.903 D . . . . 0.487 0 5.63 0.871 0.935 0.994 0.809 14.195 Deleterious (FATHMM)
685 8 144360408 G A Pathogenic SLC52A2 . . . . . . . . . . 8 144360408 144360408 G A exonic SLC52A2 . nonsynonymous SNV SLC52A2:NM_001253815:exon3:c.G916A:p.G306R,SLC52A2:NM_001253816:exon3:c.G916A:p.G306R,SLC52A2:NM_024531:exon3:c.G916A:p.G306R 8q24.3 . rs398124641 0.001 D 1.0 D 0.999 D 0.000 D 1 D 2.995 M -1.25 T -7.14 D 0.961 6.119 28.3 0.999 0.977 D 0.533 D 0.672 D 0.672 0 4.69 0.917 0.953 0.998 0.918 15.112 Deleterious
686 8 144360427 T C Pathogenic/Likely pathogenic SLC52A2 . . . . . . . . . . 8 144360427 144360427 T C exonic SLC52A2 . nonsynonymous SNV SLC52A2:NM_001253815:exon3:c.T935C:p.L312P,SLC52A2:NM_001253816:exon3:c.T935C:p.L312P,SLC52A2:NM_024531:exon3:c.T935C:p.L312P 8q24.3 . rs754320812 0.001 D 1.0 D 0.999 D 0.000 D 1 D 2.985 M -1.41 T -6.77 D 0.901 5.749 27.0 0.999 0.981 D 0.546 D 0.697 D 0.672 0 4.69 0.991 0.964 0.998 0.788 12.104 Deleterious
687 8 144360935 G A Pathogenic/Likely pathogenic SLC52A2 . . . . . . . . . . 8 144360935 144360935 G A exonic SLC52A2 . nonsynonymous SNV SLC52A2:NM_001253815:exon5:c.G1258A:p.A420T,SLC52A2:NM_001253816:exon5:c.G1258A:p.A420T,SLC52A2:NM_024531:exon5:c.G1258A:p.A420T 8q24.3 7.7e-05 rs368924997 0.002 D 0.974 D 0.649 P 0.000 D 1 D 2.28 M -1.57 D -3.14 D 0.713 6.037 28.0 0.999 0.980 D 0.454 D 0.774 D 0.707 0 5.25 0.917 1.048 0.455 0.032 16.414 Deleterious
688 9 21970902 G T Pathogenic CDKN2A . . . . . . . . . . 9 21970902 21970902 G T exonic CDKN2A . nonsynonymous SNV CDKN2A:NM_000077:exon2:c.G457A:p.D153N,CDKN2A:NM_001195132:exon2:c.G457A:p.E153K 9p21.3 . rs45476696 0.26 T 0.008 B 0.007 B . . 1 D 1.24 L -1.15 T -0.41 N . 2.584 20.0 0.993 0.912 D -0.372 T 0.381 T 0.610 0 3.31 0.827 0.789 0.169 0.174 9.714 Tolerated
689 9 21970982 T A Pathogenic, risk factor CDKN2A . . . . . . . . . . 9 21970982 21970982 T A exonic CDKN2A . synonymous SNV CDKN2A:NM_000077:exon2:c.T377T:p.V126V,CDKN2A:NM_001195132:exon2:c.T377T:p.V126V 9p21.3 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
690 9 21971037 G T Pathogenic/Likely pathogenic CDKN2A . . . . . . . . . . 9 21971037 21971037 G T exonic CDKN2A . nonsynonymous SNV CDKN2A:NM_000077:exon2:c.G322A:p.D108N,CDKN2A:NM_001195132:exon2:c.G322A:p.D108N,CDKN2A:NM_058195:exon2:c.G365A:p.R122Q 9p21.3 . rs121913381 0.076 T 1.0 D 0.945 D 0.010 N 1.000 D 0.895 L -1.22 T -2.27 N . 7.298 34 0.998 0.971 D 0.087 D 0.548 D 0.610 0 5.93 0.871 0.935 0.961 0.998 19.122 Deleterious
691 9 21971058 G T Pathogenic, risk factor CDKN2A . . . . . . . . . . 9 21971058 21971058 G T exonic CDKN2A . nonsynonymous SNV CDKN2A:NM_000077:exon2:c.G301A:p.G101R,CDKN2A:NM_001195132:exon2:c.G301A:p.G101R,CDKN2A:NM_058195:exon2:c.G344A:p.R115Q 9p21.3 . . 0.102 T 0.998 D 0.652 P 0.620 N 0.999 D 0.975 L -1.71 D -3.08 D . 5.599 26.5 0.997 0.919 D 0.013 D 0.538 D 0.610 0 5.93 0.871 0.935 0.911 0.947 19.103 Deleterious
692 9 21971200 G C Pathogenic, risk factor CDKN2A . . . . . . . . . . 9 21971200 21971200 G C exonic CDKN2A . synonymous SNV CDKN2A:NM_000077:exon2:c.G159G:p.M53M,CDKN2A:NM_001195132:exon2:c.G159G:p.M53M,CDKN2A:NM_058195:exon2:c.G202G:p.D68D 9p21.3 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
693 9 21971209 G C Pathogenic CDKN2A . . . . . . . . . . 9 21971209 21971209 G C splicing CDKN2A NM_000077:exon2:c.151-1C>G,NM_058195:exon2:c.194-1C>G,NM_058197:exon2:c.425-1C>G,NM_001195132:exon2:c.151-1C>G . . 9p21.3 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .
694 9 21974680 C T Pathogenic CDKN2A . . . . . . . . . . 9 21974680 21974680 C T exonic CDKN2A . nonsynonymous SNV CDKN2A:NM_000077:exon1:c.C148A:p.Q50K,CDKN2A:NM_001195132:exon1:c.C148A:p.Q50K,CDKN2A:NM_058197:exon1:c.C148A:p.Q50K 9p21.3 . . 0.002 D 1.0 D 0.998 D . . 1 D 1.735 L -0.07 T -3.46 D 0.948 5.975 27.7 0.987 0.963 D -0.038 T 0.561 D 0.658 0 4.89 0.917 1.048 0.071 0.854 17.323 Deleterious
695 9 21974757 G C Pathogenic, risk factor CDKN2A . . . . . . . . . . 9 21974757 21974757 G C exonic CDKN2A . synonymous SNV CDKN2A:NM_000077:exon1:c.G71G:p.R24R,CDKN2A:NM_001195132:exon1:c.G71G:p.R24R,CDKN2A:NM_058197:exon1:c.G71G:p.R24R 9p21.3 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
696 9 21974861 G T Pathogenic CDKN2A . . . . . . . . . . 9 21974861 21974861 G T UTR5 CDKN2A NM_000077:c.-34C>A,NM_001195132:c.-34C>A . . 9p21.3 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .
697 9 32974495 G A Pathogenic APTX . . . . . . . . . . 9 32974495 32974495 G A exonic APTX . nonsynonymous SNV APTX:NM_001195250:exon6:c.G717T:p.W239C,APTX:NM_001195254:exon6:c.G675T:p.W225C,APTX:NM_001195248:exon7:c.G879T:p.W293C,APTX:NM_001195249:exon7:c.G837T:p.W279C,APTX:NM_001195252:exon7:c.G663T:p.W221C,APTX:NM_175069:exon7:c.G879T:p.W293C,APTX:NM_001195251:exon8:c.G837T:p.W279C,APTX:NM_175073:exon8:c.G837T:p.W279C 9p21.1 . . 0.0 D 1.0 D 1.0 D 0.000 D 1 D 3.19 M -2.57 D -12.7 D 0.986 7.491 34 0.992 0.989 D 0.996 D 0.903 D 0.732 0 6.01 0.871 0.935 1.000 1.000 18.015 Deleterious
698 9 34647490 A G Pathogenic GALT . . . . . . . . . . 9 34647490 34647490 A G splicing GALT NM_000155:exon3:c.253-2A>G . . 9p13.3 . rs111033661 . . . . . . . . 1 A . . . . . . . 4.121 23.8 0.986 0.721 D . . . . 0.493 0 5.15 1.062 1.199 0.985 0.999 9.197 Deleterious (FATHMM)
699 9 34647858 C T Pathogenic GALT . . . . . . . . . . 9 34647858 34647858 C T exonic GALT . nonsynonymous SNV GALT:NM_001258332:exon3:c.C77T:p.S26L,GALT:NM_000155:exon5:c.C404T:p.S135L 9p13.3 0.0008 rs111033690 0.003 D 1.0 D 0.995 D 0.001 U 1 D 2.175 M -5.77 D -4.43 D 0.908 7.145 34 0.999 0.962 D 0.904 D 0.965 D 0.660 0 5.3 0.871 0.935 0.997 1.000 16.098 Deleterious
700 9 34647879 T A Pathogenic GALT . . . . . . . . . . 9 34647879 34647879 T A exonic GALT . nonsynonymous SNV GALT:NM_001258332:exon3:c.T98A:p.M33K,GALT:NM_000155:exon5:c.T425A:p.M142K 9p13.3 . rs111033695 0.0 D 0.999 D 0.995 D 0.000 U 1 D 4.055 H -6.04 D -5.24 D 0.984 4.242 23.9 0.985 0.964 D 1.003 D 0.988 D 0.660 0 5.3 0.991 1.061 0.999 0.998 12.977 Deleterious
701 9 34648170 A G Pathogenic GALT . . . . . . . . . . 9 34648170 34648170 A G exonic GALT . nonsynonymous SNV GALT:NM_001258332:exon4:c.A236G:p.Q79R,GALT:NM_000155:exon6:c.A563G:p.Q188R 9p13.3 0.0021 rs75391579 0.001 D 1.0 D 1.0 D 0.000 U 1 A 4.215 H -8.53 D -3.27 D 0.99 5.090 25.3 0.998 0.984 D 0.909 D 0.998 D 0.660 0 4.77 1.062 1.199 0.989 0.997 13.624 Deleterious
702 9 34648353 T C Pathogenic GALT . . . . . . . . . . 9 34648353 34648353 T C exonic GALT . nonsynonymous SNV GALT:NM_001258332:exon5:c.T257C:p.L86P,GALT:NM_000155:exon7:c.T584C:p.L195P 9p13.3 . rs111033728 0.094 T 0.847 P 0.468 P 0.002 U 1 A 3.795 H -5.98 D -5.23 D 0.983 5.450 26.1 0.994 0.996 D 1.146 D 0.976 D 0.737 0 4.78 0.991 1.061 0.997 1.000 11.802 Deleterious
703 9 34648379 C T Pathogenic/Likely pathogenic GALT . . . . . . . . . . 9 34648379 34648379 C T exonic GALT . stopgain GALT:NM_001258332:exon5:c.C283T:p.R95X,GALT:NM_000155:exon7:c.C610T:p.R204X 9p13.3 . rs111033737 . . . . . . 0.000 U 1 A . . . . . . . 8.860 35 0.993 0.977 D . . . . 0.737 0 0.816 0.871 0.048 0.996 0.999 8.131 Deleterious (FATHMM)
704 9 34648395 A G Pathogenic GALT . . . . . . . . . . 9 34648395 34648395 A G exonic GALT . nonsynonymous SNV GALT:NM_001258332:exon5:c.A299G:p.Y100C,GALT:NM_000155:exon7:c.A626G:p.Y209C 9p13.3 . rs111033744 0.013 D 1.0 D 0.997 D 0.022 U 0.991 D 3.565 H -5.98 D -6.87 D 0.927 3.644 23.2 0.995 0.984 D 1.049 D 0.991 D 0.737 0 3.78 1.062 1.199 0.959 0.986 7.782 Deleterious
705 9 34648403 C T Pathogenic/Likely pathogenic GALT . . . . . . . . . . 9 34648403 34648403 C T exonic GALT . stopgain GALT:NM_001258332:exon5:c.C307T:p.Q103X,GALT:NM_000155:exon7:c.C634T:p.Q212X 9p13.3 . rs111033746 . . . . . . 0.017 U 1 A . . . . . . . 8.258 35 0.994 0.821 D . . . . 0.737 0 3.7 0.871 0.935 0.753 0.994 7.696 Deleterious (FATHMM)
706 9 34648765 C T Pathogenic/Likely pathogenic GALT . . . . . . . . . . 9 34648765 34648765 C T exonic GALT . nonsynonymous SNV GALT:NM_001258332:exon6:c.C364T:p.R122C,GALT:NM_000155:exon8:c.C691T:p.R231C 9p13.3 . rs111033749 0.0 D 1.0 D 1.0 D 0.000 U 1 A 4.21 H -5.7 D -7.67 D 0.989 7.742 35 0.999 0.981 D 1.002 D 0.989 D 0.719 0 5.78 0.871 0.935 0.976 0.988 16.745 Deleterious
707 9 34648849 C T Pathogenic/Likely pathogenic GALT . . . . . . . . . . 9 34648849 34648849 C T exonic GALT . nonsynonymous SNV GALT:NM_001258332:exon6:c.C448T:p.R150W,GALT:NM_000155:exon8:c.C775T:p.R259W 9p13.3 . rs786204763 0.022 D 1.0 D 1.0 D 0.000 U 1 D 3.91 H -5.77 D -5.55 D 0.963 6.962 33 0.999 0.351 N 1.026 D 0.985 D 0.719 0 3.73 -0.444 0.036 0.787 0.997 13.739 Deleterious
708 9 34649032 G T Pathogenic GALT . . . . . . . . . . 9 34649032 34649032 G T exonic GALT . nonsynonymous SNV GALT:NM_001258332:exon7:c.G528T:p.K176N,GALT:NM_000155:exon9:c.G855T:p.K285N 9p13.3 0.0004 rs111033773 0.001 D 0.997 D 0.972 D 0.000 U 1 A 3.43 M -5.86 D -4.04 D 0.513 5.594 26.5 0.999 0.945 D 1.056 D 0.984 D 0.732 0 4.67 0.069 1.048 0.998 1.000 11.473 Deleterious
709 9 34649452 G A Pathogenic/Likely pathogenic GALT . . . . . . . . . . 9 34649452 34649452 G A exonic GALT . stopgain GALT:NM_001258332:exon8:c.G620A:p.W207X,GALT:NM_000155:exon10:c.G947A:p.W316X 9p13.3 . rs111033790 . . . . . . 0.000 U 1 A . . . . . . . 12.573 39 0.995 0.994 D . . . . 0.707 0 5.3 0.917 1.048 0.951 0.991 17.533 Deleterious (FATHMM)
710 9 34649502 C T Pathogenic/Likely pathogenic GALT . . . . . . . . . . 9 34649502 34649502 C T exonic GALT . nonsynonymous SNV GALT:NM_001258332:exon8:c.C670T:p.R224W,GALT:NM_000155:exon10:c.C997T:p.R333W 9p13.3 7.7e-05 rs111033800 0.0 D 1.0 D 0.999 D 0.000 U 1.000 D 3.47 M -5.87 D -6.37 D 0.942 7.612 34 0.999 0.969 D 1.031 D 0.986 D 0.707 0 4.29 0.871 0.048 0.981 0.999 13.900 Deleterious
711 9 34649535 C A Pathogenic GALT . . . . . . . . . . 9 34649535 34649535 C A exonic GALT . nonsynonymous SNV GALT:NM_001258332:exon8:c.C703A:p.Q235K,GALT:NM_000155:exon10:c.C1030A:p.Q344K 9p13.3 7.7e-05 rs111033814 0.002 D 0.866 P 0.507 P 0.000 U 1.000 D 2.645 M -5.47 D -2.4 N 0.933 6.242 28.9 0.990 0.983 D 1.118 D 0.957 D 0.707 0 5.21 0.871 0.935 0.997 0.998 17.317 Deleterious
712 9 36217448 G A Pathogenic/Likely pathogenic GNE . . . . . . . . . . 9 36217448 36217448 G A exonic GNE . nonsynonymous SNV GNE:NM_001190384:exon10:c.G1756T:p.V586L,GNE:NM_001190383:exon11:c.G1864T:p.V622L,GNE:NM_001190388:exon11:c.G2071T:p.V691L,GNE:NM_001128227:exon12:c.G2179T:p.V727L,GNE:NM_005476:exon12:c.G2086T:p.V696L 9p13.3 0.0013 rs121908627 0.235 T 0.841 P 0.785 P 0.000 D 1 D 1.08 L -4.71 D -0.37 N 0.746 3.728 23.3 0.993 0.990 D 1.133 D 0.967 D 0.719 0 5.67 0.871 0.935 0.988 0.898 17.256 Deleterious
713 9 36218224 C T Pathogenic GNE . . . . . . . . . . 9 36218224 36218224 C T exonic GNE . nonsynonymous SNV GNE:NM_001190384:exon9:c.C1562A:p.A521E,GNE:NM_001190383:exon10:c.C1670A:p.A557E,GNE:NM_001190388:exon10:c.C1877A:p.A626E,GNE:NM_001128227:exon11:c.C1985A:p.A662E,GNE:NM_005476:exon11:c.C1892A:p.A631E 9p13.3 . . 0.001 D 1.0 D 0.999 D 0.000 D 1 D 2.79 M -5.23 D -1.07 N 0.925 6.355 29.4 0.995 0.940 D 0.990 D 0.990 D 0.732 0 4.66 0.917 1.048 0.976 0.997 14.016 Deleterious
714 9 36219894 T C Pathogenic/Likely pathogenic GNE . . . . . . . . . . 9 36219894 36219894 T C exonic GNE . nonsynonymous SNV GNE:NM_001190384:exon8:c.T1430G:p.I477S,GNE:NM_001190383:exon9:c.T1538G:p.I513S,GNE:NM_001190388:exon9:c.T1745G:p.I582S,GNE:NM_001128227:exon10:c.T1853G:p.I618S,GNE:NM_005476:exon10:c.T1760G:p.I587S 9p13.3 . . 0.001 D 0.324 B 0.216 B 0.000 D 1 D 2.505 M -4.16 D -1.4 N 0.907 5.107 25.3 0.991 0.969 D 0.873 D 0.876 D 0.707 0 5.75 1.062 1.140 0.998 0.999 13.996 Deleterious
715 9 36236954 T C Pathogenic/Likely pathogenic GNE . . . . . . . . . . 9 36236954 36236954 T C exonic GNE . nonsynonymous SNV GNE:NM_001190388:exon3:c.T632G:p.V211G,GNE:NM_001128227:exon4:c.T740G:p.V247G,GNE:NM_001190383:exon4:c.T647G:p.V216G,GNE:NM_005476:exon4:c.T647G:p.V216G 9p13.3 . . 0.014 D 0.999 D 0.994 D 0.000 D 1 D 2.125 M -5.72 D -5.65 D 0.962 5.756 27.0 0.997 0.993 D 1.090 D 0.974 D 0.732 0 6.06 1.062 1.199 0.995 0.999 14.561 Deleterious
716 9 36246120 A T Pathogenic GNE . . . . . . . . . . 9 36246120 36246120 A T exonic GNE . synonymous SNV GNE:NM_001190384:exon2:c.A350A:p.D117D,GNE:NM_001190388:exon2:c.A512A:p.D171D,GNE:NM_001128227:exon3:c.A620A:p.D207D,GNE:NM_001190383:exon3:c.A527A:p.D176D,GNE:NM_005476:exon3:c.A527A:p.D176D 9p13.3 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
717 9 37783993 A C Pathogenic/Likely pathogenic EXOSC3 . . . . . . . . . . 9 37783993 37783993 A C exonic EXOSC3 . nonsynonymous SNV EXOSC3:NM_001002269:exon2:c.A395G:p.D132G,EXOSC3:NM_016042:exon2:c.A395G:p.D132G 9p13.2 . . 0.004 D 0.999 D 0.984 D 0.000 D 1 D 2.87 M -1.99 D -6.52 D 0.991 5.965 27.7 0.998 0.968 D 0.703 D 0.767 D 0.660 0 5.34 0.991 1.061 1.000 0.999 13.558 Deleterious
718 9 72694578 C T Pathogenic TMC1 . . . . . . . . . . 9 72694578 72694578 C T exonic TMC1 . stopgain TMC1:NM_138691:exon7:c.C100T:p.R34X 9q21.13 . rs121908073 . . . . . . 0.000 D 1 A . . . . . . . 10.689 36 0.998 0.572 D . . . . 0.516 0 3.36 -0.022 -0.421 0.990 0.991 10.218 Deleterious (FATHMM)
719 9 95101742 C T Pathogenic FANCC|C9orf3 . . . . . . . . . . 9 95101742 95101742 C T exonic FANCC . synonymous SNV FANCC:NM_000136:exon15:c.C1642A:p.R548R,FANCC:NM_001243743:exon15:c.C1642A:p.R548R 9q22.32 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
720 9 95126582 G C Pathogenic/Likely pathogenic FANCC|C9orf3 . . . . . . . . . . 9 95126582 95126582 G C splicing FANCC NM_000136:exon9:c.844-1C>G,NM_001243743:exon9:c.844-1C>G,NM_001243744:exon9:c.844-1C>G . . 9q22.32 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .
721 9 95135345 G A Pathogenic/Likely pathogenic FANCC|C9orf3 . . . . . . . . . . 9 95135345 95135345 G A splicing FANCC NM_000136:exon8:c.843+1C>T,NM_001243743:exon8:c.843+1C>T,NM_001243744:exon8:c.843+1C>T . . 9q22.32 . . . . . . . . . . 1 D . . . . . . . 5.239 25.6 0.994 0.987 D . . . . 0.078 0 4.98 0.871 0.935 0.958 0.994 17.180 Deleterious (FATHMM)
722 9 95172033 A T Pathogenic FANCC . . . . . . . . . . 9 95172033 95172033 A T intronic FANCC . . . 9q22.32 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . probably Tolerated (Intron)
723 9 95249255 C T Pathogenic/Likely pathogenic FANCC . . . . . . . . . . 9 95249255 95249255 C T exonic FANCC . nonsynonymous SNV FANCC:NM_000136:exon2:c.C37A:p.Q13K,FANCC:NM_001243743:exon2:c.C37A:p.Q13K,FANCC:NM_001243744:exon2:c.C37A:p.Q13K 9q22.32 . . 0.108 T 0.489 P 0.265 B 0.003 N 0.532 D 1.43 L 0.74 T -1.88 N 0.308 3.880 23.5 0.989 0.641 D -0.789 T 0.116 T 0.615 0 3.11 -0.044 1.048 0.823 1.000 10.363 Tolerated
724 9 96254864 A T Pathogenic HSD17B3 . . . . . . . . . . 9 96254864 96254864 A T intronic HSD17B3 . . . 9q22.32 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . probably Tolerated (Intron)
725 9 99149252 C T Pathogenic TGFBR1 . . . . . . . . . . 9 99149252 99149252 C T exonic TGFBR1 . nonsynonymous SNV TGFBR1:NM_001130916:exon8:c.C1228T:p.R410W,TGFBR1:NM_001306210:exon9:c.C1471T:p.R491W,TGFBR1:NM_004612:exon9:c.C1459T:p.R487W 9q22.33 . rs111426349 0.0 D 1.0 D 1.0 D 0.000 D 1 A 3.53 H -3.24 D -7.17 D 0.963 6.960 33 0.999 0.944 D 1.066 D 0.917 D 0.732 0 3.77 0.871 0.935 0.998 1.000 14.202 Deleterious
726 9 99149253 G A Pathogenic TGFBR1 . . . . . . . . . . 9 99149253 99149253 G A exonic TGFBR1 . nonsynonymous SNV TGFBR1:NM_001130916:exon8:c.G1229A:p.R410Q,TGFBR1:NM_001306210:exon9:c.G1472A:p.R491Q,TGFBR1:NM_004612:exon9:c.G1460A:p.R487Q 9q22.33 . rs113605875 0.0 D 1.0 D 0.999 D 0.000 D 1 D 1.725 L -3.05 D -3.6 D 0.946 7.117 34 1.000 0.993 D 0.833 D 0.844 D 0.732 0 5.66 0.917 1.048 0.997 0.999 18.885 Deleterious
727 9 101426567 T A Pathogenic/Likely pathogenic ALDOB . . . . . . . . . . 9 101426567 101426567 T A exonic ALDOB . synonymous SNV ALDOB:NM_000035:exon6:c.T612T:p.Y204Y 9q31.1 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
728 9 101427498 C A Pathogenic ALDOB . . . . . . . . . . 9 101427498 101427498 C A exonic ALDOB . nonsynonymous SNV ALDOB:NM_000035:exon5:c.C524T:p.A175V 9q31.1 . . 0.0 D 1.0 D 0.988 D 0.000 D 1 D 3.74 H -3.04 D -3.81 D 0.884 7.352 34 0.999 0.998 D 1.036 D 0.923 D 0.487 0 6.17 0.917 1.048 0.999 0.998 19.868 Deleterious
729 9 101427574 G C Pathogenic ALDOB . . . . . . . . . . 9 101427574 101427574 G C exonic ALDOB . synonymous SNV ALDOB:NM_000035:exon5:c.G448G:p.A150A 9q31.1 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
730 9 105604256 C A Pathogenic/Likely pathogenic FKTN . . . . . . . . . . 9 105604256 105604256 C A exonic FKTN . stopgain FKTN:NM_006731:exon5:c.C411A:p.C137X,FKTN:NM_001079802:exon6:c.C411A:p.C137X,FKTN:NM_001198963:exon6:c.C411A:p.C137X 9q31.2 . rs537001725 . . . . . . 0.000 D 1 A . . . . . . . 10.239 36 0.994 0.831 D . . . . 0.638 0 3.07 0.871 0.852 0.999 0.999 7.889 Deleterious (FATHMM)
731 9 105604452 C T Pathogenic FKTN . . . . . . . . . . 9 105604452 105604452 C T exonic FKTN . stopgain FKTN:NM_006731:exon5:c.C607T:p.R203X,FKTN:NM_001079802:exon6:c.C607T:p.R203X,FKTN:NM_001198963:exon6:c.C607T:p.R203X 9q31.2 . rs746763506 . . . . . . 0.003 N 1 A . . . . . . . 11.496 37 0.997 0.841 D . . . . 0.638 0 4.45 0.871 0.058 0.997 0.993 14.492 Deleterious (FATHMM)
732 9 108899816 T C Pathogenic IKBKAP . . . . . . . . . . 9 108899816 108899816 T C intronic IKBKAP . . . 9q31.3 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . probably Tolerated (Intron)
733 9 114195977 G C Pathogenic COL27A1 . . . . . . . . . . 9 114195977 114195977 G C exonic COL27A1 . nonsynonymous SNV COL27A1:NM_032888:exon7:c.G2089C:p.G697R 9q32 7.7e-05 rs140950220 0.002 D 1.0 D 1.0 D . . 1.000 D 3.34 M -5.77 D -6.8 D 0.861 5.001 25.1 0.986 0.986 D 1.013 D 0.989 D 0.737 0 5.67 0.917 0.998 0.993 1.000 17.270 Deleterious
734 9 120409290 C T Pathogenic/Likely pathogenic CDK5RAP2 . . . . . . . . . . 9 120409290 120409290 C T exonic CDK5RAP2 . synonymous SNV CDK5RAP2:NM_001272039:exon27:c.C3751A:p.R1251R,CDK5RAP2:NM_001011649:exon30:c.C4441A:p.R1481R,CDK5RAP2:NM_018249:exon30:c.C4441A:p.R1481R 9q33.2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
735 9 127661140 C T Pathogenic STXBP1 . . . . . . . . . . 9 127661140 127661140 C T exonic STXBP1 . stopgain STXBP1:NM_001032221:exon6:c.C364T:p.R122X,STXBP1:NM_003165:exon6:c.C364T:p.R122X 9q34.11 . rs794727792 . . . . . . 0.000 D 1 A . . . . . . . 10.979 37 0.997 0.916 D . . . . 0.706 0 4.92 0.871 0.935 0.997 0.969 12.657 Deleterious (FATHMM)
736 9 127668159 C T Pathogenic/Likely pathogenic STXBP1 . . . . . . . . . . 9 127668159 127668159 C T exonic STXBP1 . nonsynonymous SNV STXBP1:NM_001032221:exon10:c.C874T:p.R292C,STXBP1:NM_003165:exon10:c.C874T:p.R292C 9q34.11 . rs786205598 0.0 D 0.997 D 0.901 P 0.000 D 1 D 3.97 H -1.43 T -7.58 D 0.944 5.902 27.5 0.999 0.947 D 0.808 D 0.776 D 0.706 0 5.65 0.871 0.887 0.998 0.956 17.564 Deleterious
737 9 127818220 G A Pathogenic/Likely pathogenic ENG|LOC102723566 . . . . . . . . . . 9 127818220 127818220 G A exonic ENG . nonsynonymous SNV ENG:NM_000118:exon12:c.G1586T:p.R529L,ENG:NM_001114753:exon12:c.G1586T:p.R529L,ENG:NM_001278138:exon12:c.G1040T:p.R347L 9q34.11 . . 0.004 D 1.0 D 0.999 D 0.000 D 0.716 D 0.975 L -1.6 D -4.66 D 0.74 6.627 32 0.998 0.682 D 0.234 D 0.551 D 0.722 0 4.24 0.598 0.935 0.504 0.865 9.96 Deleterious
738 9 127829686 G A Pathogenic ENG . . . . . . . . . . 9 127829686 127829686 G A splicing ENG NM_000118:exon3:c.360+1C>T,NM_001114753:exon3:c.360+1C>T . . 9q34.11 . . . . . . . . . . 1 D . . . . . . . 4.367 24.1 0.991 0.941 D . . . . 0.140 0 4.88 0.824 0.934 0.940 0.900 13.934 Deleterious (FATHMM)
739 9 130470877 G A Pathogenic/Likely pathogenic ASS1 . . . . . . . . . . 9 130470877 130470877 G A exonic ASS1 . nonsynonymous SNV ASS1:NM_054012:exon7:c.G539A:p.S180N,ASS1:NM_000050:exon8:c.G539A:p.S180N 9q34.11 . rs121908638 0.024 D 0.99 D 0.904 P 0.000 U 1.000 A 4.445 H -6.16 D -2.6 D 0.54 2.899 21.8 0.985 0.928 D 1.003 D 0.990 D 0.696 0 3.34 0.917 1.048 0.997 0.964 12.221 Deleterious
740 9 130480398 G A Pathogenic ASS1 . . . . . . . . . . 9 130480398 130480398 G A exonic ASS1 . nonsynonymous SNV ASS1:NM_054012:exon11:c.G787A:p.V263M,ASS1:NM_000050:exon12:c.G787A:p.V263M 9q34.11 . rs192838388 0.001 D 1.0 D 0.976 D 0.000 U 1.000 D 3.26 M -5.87 D -2.44 N 0.897 6.012 27.9 0.999 0.932 D 1.027 D 0.985 D 0.696 0 4.7 0.917 1.048 0.897 0.878 16.978 Deleterious
741 9 130480405 G A Pathogenic ASS1 . . . . . . . . . . 9 130480405 130480405 G A exonic ASS1 . nonsynonymous SNV ASS1:NM_054012:exon11:c.G794A:p.R265H,ASS1:NM_000050:exon12:c.G794A:p.R265H 9q34.11 . rs398123131 0.021 D 0.964 D 0.339 B 0.000 U 1 D 3.375 M -5.98 D -4.76 D 0.944 3.797 23.4 0.999 0.946 D 1.119 D 0.969 D 0.696 0 4.7 0.917 1.048 0.944 0.962 16.978 Deleterious
742 9 130494926 C T Pathogenic/Likely pathogenic ASS1 . . . . . . . . . . 9 130494926 130494926 C T exonic ASS1 . stopgain ASS1:NM_054012:exon13:c.C1030T:p.R344X,ASS1:NM_000050:exon14:c.C1030T:p.R344X 9q34.11 . rs786204537 . . . . . . 0.387 U 1 A . . . . . . . 13.902 43 0.998 0.580 D . . . . 0.707 0 2.81 -0.064 0.923 0.875 0.996 4.450 Deleterious (FATHMM)
743 9 130494983 C T Pathogenic/Likely pathogenic ASS1 . . . . . . . . . . 9 130494983 130494983 C T exonic ASS1 . nonsynonymous SNV ASS1:NM_054012:exon13:c.C1087T:p.R363W,ASS1:NM_000050:exon14:c.C1087T:p.R363W 9q34.11 . rs121908640 0.0 D 0.976 D 0.536 P 0.000 U 1 A 4.26 H -6.0 D -7.77 D 0.98 6.540 31 0.999 0.830 D 1.114 D 0.979 D 0.707 0 3.67 0.871 0.923 0.997 0.967 9.819 Deleterious
744 9 130499545 G A Pathogenic ASS1 . . . . . . . . . . 9 130499545 130499545 G A exonic ASS1 . nonsynonymous SNV ASS1:NM_054012:exon14:c.G1168A:p.G390R,ASS1:NM_000050:exon15:c.G1168A:p.G390R 9q34.11 0.0002 rs121908641 0.0 D 1.0 D 1.0 D 0.000 U 1 A 4.06 H -7.92 D -7.54 D 0.951 6.937 33 0.999 0.968 D 0.888 D 0.997 D 0.707 0 3.56 0.917 0.953 0.978 0.945 13.035 Deleterious
745 9 130500975 G C Pathogenic/Likely pathogenic ASS1 . . . . . . . . . . 9 130500975 130500975 G C splicing ASS1 NM_000050:exon16:c.1194-1G>C,NM_054012:exon15:c.1194-1G>C . . 9q34.11 . rs727503814 . . . . . . . . 1 D . . . . . . . 4.794 24.7 0.995 0.972 D . . . . 0.383 0 4.72 0.917 0.902 1.000 1.000 16.616 Deleterious (FATHMM)
746 9 131510287 C T Pathogenic POMT1 . . . . . . . . . . 9 131510287 131510287 C T exonic POMT1 . stopgain POMT1:NM_001136114:exon7:c.C376T:p.R126X,POMT1:NM_001077366:exon8:c.C565T:p.R189X,POMT1:NM_001077365:exon9:c.C727T:p.R243X,POMT1:NM_001136113:exon9:c.C727T:p.R243X,POMT1:NM_007171:exon9:c.C793T:p.R265X 9q34.13 . rs398124247 . . . . . . 0.000 D 1 A . . . . . . . 8.596 35 0.996 0.854 D . . . . 0.707 0 1.93 -0.662 -0.250 0.343 0.013 14.707 Deleterious (FATHMM)
747 9 131513243 C T Pathogenic POMT1 . . . . . . . . . . 9 131513243 131513243 C T exonic POMT1 . stopgain POMT1:NM_001136114:exon10:c.C736T:p.Q246X,POMT1:NM_001077366:exon11:c.C925T:p.Q309X,POMT1:NM_001077365:exon12:c.C1087T:p.Q363X,POMT1:NM_001136113:exon12:c.C1087T:p.Q363X,POMT1:NM_007171:exon12:c.C1153T:p.Q385X 9q34.13 . rs200056620 . . . . . . 0.002 N 1 A . . . . . . . 10.986 37 0.998 0.936 D . . . . 0.719 0 4.26 0.871 0.935 0.976 0.900 13.667 Deleterious (FATHMM)
748 9 132903785 C T Pathogenic TSC1 . . . . . . . . . . 9 132903785 132903785 C T exonic TSC1 . synonymous SNV TSC1:NM_001162427:exon16:c.C1921A:p.R641R,TSC1:NM_000368:exon17:c.C2074A:p.R692R,TSC1:NM_001162426:exon17:c.C2071A:p.R691R 9q34.13 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
749 9 132906053 C T Pathogenic TSC1 . . . . . . . . . . 9 132906053 132906053 C T exonic TSC1 . synonymous SNV TSC1:NM_001162427:exon14:c.C1372A:p.R458R,TSC1:NM_000368:exon15:c.C1525A:p.R509R,TSC1:NM_001162426:exon15:c.C1522A:p.R508R 9q34.13 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
750 9 132911509 C T Pathogenic TSC1 . . . . . . . . . . 9 132911509 132911509 C T exonic TSC1 . nonsynonymous SNV TSC1:NM_001162427:exon9:c.C820A:p.Q274K,TSC1:NM_000368:exon10:c.C973A:p.Q325K,TSC1:NM_001162426:exon10:c.C973A:p.Q325K 9q34.13 . . 0.874 T 0.973 D 0.78 P 0.003 N 1 D 1.95 M -2.1 D -0.49 N 0.753 2.309 18.22 0.995 0.991 D 0.443 D 0.708 D 0.707 0 5.79 0.917 1.048 0.986 0.998 17.196 Deleterious
751 9 132921367 C T Pathogenic TSC1 . . . . . . . . . . 9 132921367 132921367 C T exonic TSC1 . synonymous SNV TSC1:NM_001162427:exon7:c.C580A:p.R194R,TSC1:NM_000368:exon8:c.C733A:p.R245R,TSC1:NM_001162426:exon8:c.C733A:p.R245R 9q34.13 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
752 9 132921418 C T Pathogenic TSC1 . . . . . . . . . . 9 132921418 132921418 C T exonic TSC1 . synonymous SNV TSC1:NM_001162427:exon7:c.C529A:p.R177R,TSC1:NM_000368:exon8:c.C682A:p.R228R,TSC1:NM_001162426:exon8:c.C682A:p.R228R 9q34.13 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
753 9 133636712 T C Pathogenic DBH . . . . . . . . . . 9 133636712 133636712 T C splicing DBH NM_000787:exon1:c.339+2T>C . . 9q34.2 0.0009 rs74853476 . . . . . . . . 1 D . . . . . . . 3.386 23.0 0.992 0.956 D . . . . 0.057 0 5.24 0.991 1.058 0.856 0.045 15.138 Deleterious (FATHMM)
754 10 252459 C T Pathogenic ZMYND11 . . . . . . . . . . 10 252459 252459 C T exonic ZMYND11 . nonsynonymous SNV ZMYND11:NM_001202465:exon13:c.C1543T:p.R515W,ZMYND11:NM_001202464:exon14:c.C1636T:p.R546W,ZMYND11:NM_001202466:exon14:c.C1633T:p.R545W,ZMYND11:NM_006624:exon15:c.C1798T:p.R600W 10p15.3 . rs797044854 0.0 D 1.0 D 0.999 D 0.000 D . . 2.745 M . . -4.52 D 0.753 7.451 34 0.999 0.969 D 0.127 D 0.455 T 0.706 0 4.32 0.871 0.870 1.000 0.998 13.478 Tolerated
755 10 14945110 C T Pathogenic DCLRE1C . . . . . . . . . . 10 14945110 14945110 C T exonic DCLRE1C . synonymous SNV DCLRE1C:NM_001033855:exon3:c.C241A:p.R81R 10p13 . rs121908156 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
756 10 27944296 G T Pathogenic ARMC4 . . . . . . . . . . 10 27944296 27944296 G T exonic ARMC4 . nonsynonymous SNV ARMC4:NM_001290021:exon5:c.G244A:p.E82K,ARMC4:NM_001312689:exon7:c.G745A:p.E249K,ARMC4:NM_001290020:exon12:c.G1669A:p.E557K,ARMC4:NM_018076:exon12:c.G1669A:p.E557K 10p12.1 0.0002 rs145742175 0.033 D 1.0 D 0.973 D 0.000 D 1 D 3.015 M 0.78 T -3.69 D 0.947 6.416 29.7 0.999 0.941 D -0.423 T 0.356 T 0.638 0 5.34 0.871 0.887 0.991 0.743 19.394 Tolerated
757 10 43113622 G A Pathogenic RET . . . . . . . . . . 10 43113622 43113622 G A exonic RET . nonsynonymous SNV RET:NM_020630:exon10:c.G1826A:p.C609Y,RET:NM_020975:exon10:c.G1826A:p.C609Y 10q11.21 . rs77939446 0.0 D 1.0 D 0.999 D 0.000 D 1 A 2.8 M -2.67 D -8.69 D 0.996 5.156 25.4 0.994 0.949 D 0.951 D 0.992 D 0.696 0 4.92 0.917 1.048 0.985 0.393 16.727 Deleterious
758 10 43113648 T C Pathogenic RET . . . . . . . . . . 10 43113648 43113648 T C exonic RET . nonsynonymous SNV RET:NM_020630:exon10:c.T1852C:p.C618R,RET:NM_020975:exon10:c.T1852C:p.C618R 10q11.21 . rs76262710 0.019 D 0.976 D 0.938 D 0.000 D 1 D 2.78 M -2.63 D -5.54 D 0.985 5.325 25.8 0.997 0.971 D 1.088 D 0.977 D 0.696 0 4.92 0.991 1.061 1.000 0.994 13.425 Deleterious
759 10 43113648 T G Pathogenic RET . . . . . . . . . . 10 43113648 43113648 T G exonic RET . nonsynonymous SNV RET:NM_020630:exon10:c.T1852G:p.C618G,RET:NM_020975:exon10:c.T1852G:p.C618G 10q11.21 . rs76262710 0.007 D 0.976 D 0.882 P 0.000 D 1 D 2.78 M -2.61 D -6.95 D 0.99 5.095 25.3 0.979 0.975 D 1.078 D 0.975 D 0.696 0 4.92 0.991 1.061 1.000 0.994 13.425 Deleterious
760 10 43113649 G C Pathogenic RET . . . . . . . . . . 10 43113649 43113649 G C exonic RET . nonsynonymous SNV RET:NM_020630:exon10:c.G1853C:p.C618S,RET:NM_020975:exon10:c.G1853C:p.C618S 10q11.21 . rs79781594 0.028 D 0.976 D 0.882 P 0.000 D 1 A 2.78 M -2.58 D -5.7 D 0.983 3.521 23.1 0.994 0.986 D 1.077 D 0.977 D 0.696 0 4.92 0.917 1.048 1.000 0.997 16.727 Deleterious
761 10 43113654 T C Pathogenic RET . . . . . . . . . . 10 43113654 43113654 T C exonic RET . nonsynonymous SNV RET:NM_020630:exon10:c.T1858C:p.C620R,RET:NM_020975:exon10:c.T1858C:p.C620R 10q11.21 . rs77316810 0.001 D 1.0 D 0.999 D 0.000 D 1 A 2.78 M -2.49 D -5.44 D 0.994 5.330 25.8 0.997 0.951 D 1.092 D 0.977 D 0.696 0 4.92 0.991 1.061 0.999 0.996 13.425 Deleterious
762 10 43113655 G T Pathogenic RET . . . . . . . . . . 10 43113655 43113655 G T exonic RET . nonsynonymous SNV RET:NM_020630:exon10:c.G1859T:p.C620F,RET:NM_020975:exon10:c.G1859T:p.C620F 10q11.21 . rs77503355 0.0 D 1.0 D 0.999 D 0.000 D 1 D 2.78 M -2.48 D -6.73 D 0.993 5.869 27.4 0.993 0.985 D 1.068 D 0.980 D 0.696 0 4.92 0.917 1.048 0.998 0.995 16.727 Deleterious
763 10 43114500 T C Pathogenic RET . . . . . . . . . . 10 43114500 43114500 T C exonic RET . nonsynonymous SNV RET:NM_020630:exon11:c.T1900C:p.C634R,RET:NM_020975:exon11:c.T1900C:p.C634R 10q11.21 . rs75076352 0.002 D 1.0 D 0.999 D 0.000 D 1 D 2.47 M -1.24 T -5.8 D 0.986 3.753 23.3 0.997 0.946 D 1.084 D 0.976 D 0.696 0 4.52 0.991 1.061 0.844 0.802 14.041 Deleterious
764 10 43114501 G A Pathogenic RET . . . . . . . . . . 10 43114501 43114501 G A exonic RET . nonsynonymous SNV RET:NM_020630:exon11:c.G1901A:p.C634Y,RET:NM_020975:exon11:c.G1901A:p.C634Y 10q11.21 . rs75996173 0.026 D 1.0 D 0.999 D 0.000 D 1 D 2.47 M -1.27 T -6.95 D 0.997 3.715 23.3 0.997 0.957 D 1.095 D 0.976 D 0.696 0 3.61 0.917 1.048 0.843 0.822 14.049 Deleterious
765 10 43118458 G T Pathogenic RET . . . . . . . . . . 10 43118458 43118458 G T exonic RET . nonsynonymous SNV RET:NM_020630:exon13:c.G2370T:p.L790F,RET:NM_020975:exon13:c.G2370T:p.L790F 10q11.21 . rs75030001 0.003 D 1.0 D 0.992 D 0.000 D 1.000 D 0.95 L -2.87 D -3.66 D 0.897 5.093 25.3 0.999 0.696 D 0.147 D 0.671 D 0.706 0 0.958 -0.044 1.048 0.969 0.996 4.777 Deleterious
766 10 43119548 G A Pathogenic RET . . . . . . . . . . 10 43119548 43119548 G A exonic RET . nonsynonymous SNV RET:NM_020630:exon14:c.G2410A:p.V804M,RET:NM_020975:exon14:c.G2410A:p.V804M 10q11.21 7.8e-05 rs79658334 0.028 D 1.0 D 1.0 D 0.000 D 1 D -1.36 N -2.2 D -2.23 N 0.955 5.658 26.7 0.998 0.992 D 0.475 D 0.497 T 0.646 0 5.36 0.917 0.998 0.995 0.995 19.077 Tolerated
767 10 43120144 T G Pathogenic RET . . . . . . . . . . 10 43120144 43120144 T G exonic RET . nonsynonymous SNV RET:NM_020630:exon15:c.T2671G:p.S891A,RET:NM_020975:exon15:c.T2671G:p.S891A 10q11.21 . rs75234356 0.11 T 0.998 D 0.998 D 0.000 D 1 A -0.09 N -1.64 D -2.79 D 0.918 5.797 27.1 0.997 0.968 D 0.145 D 0.492 T 0.696 0 5.58 0.991 1.061 0.979 0.976 15.752 Tolerated
768 10 43121968 T C Pathogenic RET . . . . . . . . . . 10 43121968 43121968 T C exonic RET . nonsynonymous SNV RET:NM_020630:exon16:c.T2753C:p.M918T,RET:NM_020975:exon16:c.T2753C:p.M918T 10q11.21 . rs74799832 0.0 D 1.0 D 1.0 D 0.000 D 1 A 1.63 L -2.68 D -5.47 D 0.981 6.098 28.2 0.993 0.983 D 0.776 D 0.799 D 0.706 0 5.43 0.991 1.061 1.000 1.000 15.777 Deleterious
769 10 49472472 A G Pathogenic ERCC6 . . . . . . . . . . 10 49472472 49472472 A G splicing ERCC6 NM_000124:exon16:c.2830-2T>C . . 10q11.23 . . . . . . . . . . 1 D . . . . . . . 4.127 23.8 0.993 0.988 D . . . . 0.099 0 5.46 0.938 1.061 0.813 0.756 15.824 Deleterious (FATHMM)
770 10 49478437 C T Pathogenic ERCC6 . . . . . . . . . . 10 49478437 49478437 C T exonic ERCC6 . synonymous SNV ERCC6:NM_000124:exon11:c.C2203A:p.R735R 10q11.23 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
771 10 49482689 C T Pathogenic ERCC6 . . . . . . . . . . 10 49482689 49482689 C T exonic ERCC6 . nonsynonymous SNV ERCC6:NM_000124:exon10:c.C2167A:p.Q723K 10q11.23 . . 0.0 D 0.972 D 0.794 P . . 1 D 2.475 M -3.19 D -3.63 D 0.773 4.799 24.8 0.993 0.996 D 0.916 D 0.871 D 0.707 0 5.81 0.917 1.048 1.000 0.986 18.243 Deleterious
772 10 49505883 G T Pathogenic ERCC6 . . . . . . . . . . 10 49505883 49505883 G T splicing ERCC6 NM_000124:exon6:c.1526+1C>A . . 10q11.23 . . . . . . . . . . 1 D . . . . . . . 5.561 26.4 0.995 0.996 D . . . . 0.162 0 6.07 0.871 0.935 0.992 0.996 18.840 Deleterious (FATHMM)
773 10 49530797 C T Pathogenic/Likely pathogenic ERCC6|ERCC6-PGBD3 . . . . . . . . . . 10 49530797 49530797 C T exonic ERCC6,ERCC6-PGBD3 . nonsynonymous SNV ERCC6:NM_000124:exon3:c.C466A:p.Q156K,ERCC6-PGBD3:NM_001277058:exon3:c.C466A:p.Q156K,ERCC6-PGBD3:NM_001277059:exon3:c.C466A:p.Q156K 10q11.23 . . 0.121 T 0.996 D 0.874 P . . 1 D 2.045 M 3.21 T -1.26 N 0.365 6.179 28.6 0.996 0.997 D 0.110 D 0.642 D 0.732 0 5.31 0.917 1.048 0.994 0.999 18.577 Deleterious
774 10 51467819 G A Pathogenic PRKG1 . . . . . . . . . . 10 51467819 51467819 G A exonic PRKG1 . nonsynonymous SNV PRKG1:NM_001098512:exon3:c.G530A:p.R177Q,PRKG1:NM_006258:exon3:c.G575A:p.R192Q 10q21.1 . rs397515330 0.001 D 1.0 D 0.996 D 0.000 D 1 D 4.64 H -2.38 D -3.56 D 0.839 7.926 35 1.000 0.990 D 1.048 D 0.979 D 0.638 0 5.79 0.917 1.048 1.000 0.994 17.517 Deleterious
775 10 53938872 C T Pathogenic/Likely pathogenic PCDH15 . . . . . . . . . . 10 53938872 53938872 C T exonic PCDH15 . synonymous SNV PCDH15:NM_001142765:exon23:c.C3103A:p.R1035R,PCDH15:NM_001142767:exon24:c.C3205A:p.R1069R,PCDH15:NM_001142768:exon24:c.C3250A:p.R1084R,PCDH15:NM_001142773:exon24:c.C3250A:p.R1084R,PCDH15:NM_001142764:exon25:c.C3316A:p.R1106R,PCDH15:NM_001142766:exon25:c.C3316A:p.R1106R,PCDH15:NM_033056:exon25:c.C3316A:p.R1106R,PCDH15:NM_001142763:exon26:c.C3331A:p.R1111R 10q21.1 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
776 10 54317414 C T Pathogenic PCDH15 . . . . . . . . . . 10 54317414 54317414 C T exonic PCDH15 . synonymous SNV PCDH15:NM_001142767:exon7:c.C622A:p.R208R,PCDH15:NM_001142768:exon7:c.C667A:p.R223R,PCDH15:NM_001142773:exon7:c.C667A:p.R223R,PCDH15:NM_001142764:exon8:c.C733A:p.R245R,PCDH15:NM_001142765:exon8:c.C733A:p.R245R,PCDH15:NM_001142766:exon8:c.C733A:p.R245R,PCDH15:NM_033056:exon8:c.C733A:p.R245R,PCDH15:NM_001142763:exon9:c.C748A:p.R250R 10q21.1 . rs111033260 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
777 10 71779316 G A Pathogenic CDH23 . . . . . . . . . . 10 71779316 71779316 G A exonic CDH23 . nonsynonymous SNV CDH23:NM_022124:exon39:c.G5237A:p.R1746Q 10q22.1 0.0002 rs111033270 . . 0.624 P 0.156 B 0.000 D 0.999 A 1.04 L . . . . 0.958 5.987 27.8 1.000 0.967 D -0.992 T 0.075 T 0.497 0 4.88 0.917 1.048 0.998 0.999 11.665 Tolerated
778 10 71791123 G A Pathogenic CDH23 . . . . . . . . . . 10 71791123 71791123 G A intronic CDH23 . . . 10q22.1 7.8e-05 rs367928692 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . probably Tolerated (Intron)
779 10 86876019 A G Pathogenic/Likely pathogenic BMPR1A . . . . . . . . . . 10 86876019 86876019 A G exonic BMPR1A . nonsynonymous SNV BMPR1A:NM_004329:exon3:c.A1G:p.M1V 10q23.2 . rs786203157 0.0 D 0.0 B 0.0 B 0.000 D 1 D . . -1.54 D -0.29 N 0.945 1.160 11.53 0.975 0.945 D -0.393 T 0.390 T 0.732 0 5.3 1.062 1.007 0.990 0.891 13.780 Tolerated
780 10 86917140 C T Pathogenic BMPR1A . . . . . . . . . . 10 86917140 86917140 C T exonic BMPR1A . stopgain BMPR1A:NM_004329:exon9:c.C682T:p.R228X 10q23.2 . rs587782682 . . . . . . 0.000 D 1 A . . . . . . . 14.523 46 0.998 0.970 D . . . . 0.563 0 5.63 0.871 0.935 0.999 1.000 20.040 Deleterious (FATHMM)
781 10 86917275 C T Pathogenic BMPR1A . . . . . . . . . . 10 86917275 86917275 C T exonic BMPR1A . stopgain BMPR1A:NM_004329:exon9:c.C817T:p.R273X 10q23.2 . rs587782400 . . . . . . 0.000 D 1 A . . . . . . . 13.054 41 0.998 0.897 D . . . . 0.563 0 4.85 -0.022 0.020 0.995 0.999 15.136 Deleterious (FATHMM)
782 10 87057692 C T Pathogenic GLUD1 . . . . . . . . . . 10 87057692 87057692 C T exonic GLUD1 . stopgain GLUD1:NM_005271:exon11:c.C1493A:p.S498X 10q23.2 . . . . . . . . 0.000 D 1 A . . . . . . . 14.834 48 0.997 0.993 D . . . . 0.707 0 4.98 0.917 0.993 0.993 1.000 18.657 Deleterious (FATHMM)
783 10 87864517 T A Pathogenic PTEN . . . . . . . . . . 10 87864517 87864517 T A exonic PTEN . stopgain PTEN:NM_000314:exon1:c.T48A:p.Y16X,PTEN:NM_001304717:exon2:c.T567A:p.Y189X 10q23.31 . rs587782187 . . . . . . 0.000 D 1 A . . . . . . . 7.682 35 0.996 0.652 D . . . . 0.733 0 0.362 0.011 0.090 0.999 1.000 8.698 Deleterious (FATHMM)
784 10 87864518 C T Pathogenic PTEN . . . . . . . . . . 10 87864518 87864518 C T exonic PTEN . stopgain PTEN:NM_000314:exon1:c.C49T:p.Q17X,PTEN:NM_001304717:exon2:c.C568T:p.Q190X 10q23.31 . rs786204910 . . . . . . 0.000 D 1 A . . . . . . . 10.393 36 0.998 0.927 D . . . . 0.733 0 5.05 0.791 0.855 0.999 1.000 17.161 Deleterious (FATHMM)
785 10 87864540 A G Pathogenic PTEN . . . . . . . . . . 10 87864540 87864540 A G exonic PTEN . nonsynonymous SNV PTEN:NM_000314:exon1:c.A71G:p.D24G,PTEN:NM_001304717:exon2:c.A590G:p.D197G 10q23.31 . rs797044910 0.0 D 0.539 P 0.193 B 0.000 D 1 D 3.99 H -5.18 D -6.02 D 0.992 5.426 26.1 0.998 0.948 D 1.095 D 0.957 D 0.628 0 5.28 0.960 1.091 1.000 1.000 14.181 Deleterious
786 10 87925512 G A Pathogenic PTEN . . . . . . . . . . 10 87925512 87925512 G A splicing PTEN NM_000314:exon3:c.165-1G>A,NM_001304717:exon4:c.684-1G>A . . 10q23.31 . rs786203847 . . . . . . . . 1 D . . . . . . . 5.426 26.1 0.995 0.994 D . . . . 0.295 0 5.45 0.917 1.048 1.000 1.000 19.279 Deleterious (FATHMM)
787 10 87933147 C T Pathogenic PTEN . . . . . . . . . . 10 87933147 87933147 C T exonic PTEN . stopgain PTEN:NM_000314:exon5:c.C388T:p.R130X,PTEN:NM_001304717:exon6:c.C907T:p.R303X 10q23.31 . rs121909224 . . . . . . 0.000 D 1 A . . . . . . . 12.360 39 0.998 0.946 D . . . . 0.722 0 5.22 0.871 0.852 1.000 1.000 18.778 Deleterious (FATHMM)
788 10 87933148 G A Pathogenic PTEN . . . . . . . . . . 10 87933148 87933148 G A exonic PTEN . nonsynonymous SNV PTEN:NM_000314:exon5:c.G389A:p.R130Q,PTEN:NM_001304717:exon6:c.G908A:p.R303Q 10q23.31 . rs121909229 0.0 D 1.0 D 0.998 D 0.000 D 1 A 3.9 H -4.88 D -3.86 D 0.984 7.065 33 1.000 0.985 D 1.062 D 0.978 D 0.722 0 5.22 0.917 0.953 0.998 1.000 18.778 Deleterious
789 10 87933165 T C Pathogenic PTEN . . . . . . . . . . 10 87933165 87933165 T C exonic PTEN . nonsynonymous SNV PTEN:NM_000314:exon5:c.T406C:p.C136R,PTEN:NM_001304717:exon6:c.T925C:p.C309R 10q23.31 . rs786201044 0.001 D 1.0 D 0.999 D 0.000 D 1 D 3.85 H -5.11 D -9.91 D 0.989 5.205 25.5 0.997 0.970 D 1.051 D 0.980 D 0.722 0 5.22 0.991 0.964 0.999 1.000 15.102 Deleterious
790 10 87933166 G A Pathogenic PTEN . . . . . . . . . . 10 87933166 87933166 G A exonic PTEN . nonsynonymous SNV PTEN:NM_000314:exon5:c.G407A:p.C136Y,PTEN:NM_001304717:exon6:c.G926A:p.C309Y 10q23.31 . rs786204859 0.008 D 1.0 D 0.999 D 0.000 D 1 D 3.85 H -5.11 D -8.88 D 0.987 5.668 26.7 0.998 0.985 D 1.044 D 0.982 D 0.722 0 5.22 0.917 0.953 1.000 1.000 18.778 Deleterious
791 10 87952116 A G Pathogenic PTEN . . . . . . . . . . 10 87952116 87952116 A G splicing PTEN NM_000314:exon6:c.493-2A>G,NM_001304717:exon7:c.1012-2A>G . . 10q23.31 . rs587781784 . . . . . . . . 1 D . . . . . . . 4.752 24.7 0.995 0.963 D . . . . 0.257 0 5.74 1.062 1.140 0.905 0.999 16.045 Deleterious (FATHMM)
792 10 87952136 C T Pathogenic PTEN . . . . . . . . . . 10 87952136 87952136 C T exonic PTEN . stopgain PTEN:NM_000314:exon6:c.C511T:p.Q171X,PTEN:NM_001304717:exon7:c.C1030T:p.Q344X 10q23.31 . rs786204864 . . . . . . 0.000 D 1 A . . . . . . . 13.073 41 0.998 0.950 D . . . . 0.722 0 5.74 0.871 0.892 1.000 1.000 19.931 Deleterious (FATHMM)
793 10 87952142 C T Pathogenic/Likely pathogenic PTEN . . . . . . . . . . 10 87952142 87952142 C T exonic PTEN . nonsynonymous SNV PTEN:NM_000314:exon6:c.C517T:p.R173C,PTEN:NM_001304717:exon7:c.C1036T:p.R346C 10q23.31 . rs121913293 0.0 D 1.0 D 0.966 D 0.000 D 1 D 3.8 H -5.24 D -7.16 D 0.974 7.686 35 0.999 0.951 D 1.058 D 0.981 D 0.722 0 5.74 0.871 0.892 1.000 1.000 19.931 Deleterious
794 10 87957915 C T Pathogenic PTEN . . . . . . . . . . 10 87957915 87957915 C T exonic PTEN . stopgain PTEN:NM_000314:exon7:c.C697T:p.R233X,PTEN:NM_001304718:exon7:c.C106T:p.R36X,PTEN:NM_001304717:exon8:c.C1216T:p.R406X 10q23.31 . rs121909219 . . . . . . 0.000 D 1 A . . . . . . . 11.451 37 0.997 0.815 D . . . . 0.719 0 0.533 -0.058 0.807 0.993 0.999 14.484 Deleterious (FATHMM)
795 10 87957955 C T Pathogenic PTEN . . . . . . . . . . 10 87957955 87957955 C T exonic PTEN . nonsynonymous SNV PTEN:NM_000314:exon7:c.C737T:p.P246L,PTEN:NM_001304718:exon7:c.C146T:p.P49L,PTEN:NM_001304717:exon8:c.C1256T:p.P419L 10q23.31 . rs587782350 0.014 D 0.728 P 0.116 B 0.000 D 1 D 2.19 M -2.06 D -5.84 D 0.947 4.127 23.8 0.989 0.975 D 0.024 D 0.511 D 0.719 0 5.15 0.871 0.807 0.997 0.990 18.616 Deleterious
796 10 87960892 A T Pathogenic PTEN . . . . . . . . . . 10 87960892 87960892 A T splicing PTEN NM_000314:exon8:c.802-2A>T,NM_001304717:exon9:c.1321-2A>T,NM_001304718:exon8:c.211-2A>T . . 10q23.31 . rs587782455 . . . . . . . . 1 D . . . . . . . 4.206 23.9 0.995 0.997 D . . . . 0.089 0 5.13 1.062 1.140 0.983 0.986 14.923 Deleterious (FATHMM)
797 10 87960984 C T Pathogenic PTEN . . . . . . . . . . 10 87960984 87960984 C T exonic PTEN . stopgain PTEN:NM_000314:exon8:c.C892T:p.Q298X,PTEN:NM_001304718:exon8:c.C301T:p.Q101X,PTEN:NM_001304717:exon9:c.C1411T:p.Q471X 10q23.31 . rs371387815 . . . . . . 0.000 D 1 A . . . . . . . 12.152 38 0.998 0.976 D . . . . 0.732 0 5.13 0.871 0.892 1.000 1.000 18.563 Deleterious (FATHMM)
798 10 87961056 A T Pathogenic PTEN . . . . . . . . . . 10 87961056 87961056 A T exonic PTEN . stopgain PTEN:NM_000314:exon8:c.A964T:p.K322X,PTEN:NM_001304718:exon8:c.A373T:p.K125X,PTEN:NM_001304717:exon9:c.A1483T:p.K495X 10q23.31 . rs786202004 . . . . . . 0.000 D 1 A . . . . . . . 13.466 42 0.996 0.970 D . . . . 0.707 0 5.37 1.062 1.140 0.991 1.000 15.354 Deleterious (FATHMM)
799 10 87961095 C T Pathogenic PTEN . . . . . . . . . . 10 87961095 87961095 C T exonic PTEN . stopgain PTEN:NM_000314:exon8:c.C1003T:p.R335X,PTEN:NM_001304718:exon8:c.C412T:p.R138X,PTEN:NM_001304717:exon9:c.C1522T:p.R508X 10q23.31 . rs121909231 . . . . . . 0.000 D 1 A . . . . . . . 12.828 40 0.998 0.903 D . . . . 0.707 0 4.39 -0.058 0.892 0.999 1.000 12.825 Deleterious (FATHMM)
800 10 88941309 G A Pathogenic ACTA2 . . . . . . . . . . 10 88941309 88941309 G A exonic ACTA2 . nonsynonymous SNV ACTA2:NM_001141945:exon6:c.G536T:p.R179L,ACTA2:NM_001613:exon6:c.G536T:p.R179L 10q23.31 . . . . 0.903 P 0.837 P 0.000 D 1 D 4.455 H -3.6 D -5.61 D 0.984 7.913 35 0.997 0.982 D 1.089 D 0.949 D 0.732 0 5.86 0.871 0.935 1.000 0.999 18.742 Deleterious
801 10 88943813 G A Pathogenic/Likely pathogenic ACTA2 . . . . . . . . . . 10 88943813 88943813 G A exonic ACTA2 . nonsynonymous SNV ACTA2:NM_001141945:exon4:c.G353T:p.R118L,ACTA2:NM_001613:exon4:c.G353T:p.R118L 10q23.31 . . . . 0.97 D 0.983 D 0.000 D 1 D 4.575 H -4.23 D -5.52 D 0.97 8.030 35 0.997 0.986 D 1.059 D 0.975 D 0.707 0 5.86 0.871 0.935 0.999 0.998 18.742 Deleterious
802 10 99832069 C T Pathogenic/Likely pathogenic ABCC2 . . . . . . . . . . 10 99832069 99832069 C T exonic ABCC2 . stopgain ABCC2:NM_000392:exon23:c.C3196T:p.R1066X 10q24.2 0.0010 rs72558199 . . . . . . 0.037 N 1 A . . . . . . . 12.703 40 0.997 0.158 N . . . . 0.554 0 4.84 0.868 0.890 0.937 0.804 15.649 Deleterious (DANN)
803 10 110812298 G A Pathogenic RBM20 . . . . . . . . . . 10 110812298 110812298 G A exonic RBM20 . nonsynonymous SNV RBM20:NM_001134363:exon9:c.G1901A:p.R634Q 10q25.2 . rs267607001 0.0 D 1.0 D 0.998 D 0.023 N 1.000 D 1.79 L -3.31 D -1.52 N 0.774 5.844 27.3 0.999 0.970 D 0.899 D 0.875 D 0.554 0 5.69 0.917 1.048 0.955 0.227 19.805 Deleterious
804 10 110812303 C A Pathogenic/Likely pathogenic RBM20 . . . . . . . . . . 10 110812303 110812303 C A exonic RBM20 . nonsynonymous SNV RBM20:NM_001134363:exon9:c.C1906A:p.R636S 10q25.2 . rs267607002 0.0 D 1.0 D 0.999 D 0.002 N 1 D 1.79 L -3.52 D -3.02 D 0.863 6.219 28.8 0.997 0.955 D 0.894 D 0.891 D 0.554 0 5.69 0.871 0.935 0.992 0.218 19.805 Deleterious
805 10 110812304 G A Pathogenic/Likely pathogenic RBM20 . . . . . . . . . . 10 110812304 110812304 G A exonic RBM20 . nonsynonymous SNV RBM20:NM_001134363:exon9:c.G1907A:p.R636H 10q25.2 . rs267607004 0.0 D 1.0 D 0.999 D 0.002 N 1 D 1.79 L -3.54 D -2.8 D 0.797 6.116 28.3 0.999 0.973 D 0.972 D 0.894 D 0.554 0 5.69 0.917 1.048 0.990 0.225 19.805 Deleterious
806 10 110812310 C T Pathogenic RBM20 . . . . . . . . . . 10 110812310 110812310 C T exonic RBM20 . nonsynonymous SNV RBM20:NM_001134363:exon9:c.C1913T:p.P638L 10q25.2 . rs267607003 0.0 D 1.0 D 0.999 D 0.001 N 1 D 1.79 L -3.13 D -6.18 D 0.869 6.036 28.0 0.999 0.961 D 0.858 D 0.853 D 0.554 0 5.69 0.871 0.935 0.996 0.219 19.805 Deleterious
807 10 110964362 A G Pathogenic/Likely pathogenic, not provided SHOC2 . . . . . . . . . . 10 110964362 110964362 A G exonic SHOC2 . nonsynonymous SNV SHOC2:NM_001269039:exon1:c.A4G:p.S2G,SHOC2:NM_007373:exon2:c.A4G:p.S2G 10q25.2 . rs267607048 0.0 D 0.954 P 0.916 D 0.000 D 1.000 D 0 N 1.32 T -0.35 N 0.817 4.661 24.5 0.997 0.989 D -0.871 T 0.106 T 0.732 0 5.22 1.062 1.083 1.000 1.000 15.105 Tolerated
808 10 119670037 C T Pathogenic/Likely pathogenic BAG3 . . . . . . . . . . 10 119670037 119670037 C T exonic BAG3 . stopgain BAG3:NM_004281:exon2:c.C367T:p.R123X 10q26.11 . rs387906875 . . . . . . 0.001 D 1 A . . . . . . . 11.244 37 0.998 0.859 D . . . . 0.834 0 3.46 0.598 0.935 0.803 0.556 12.989 Deleterious (FATHMM)
809 10 121515263 T G Pathogenic/Likely pathogenic FGFR2 . . . . . . . . . . 10 121515263 121515263 T G exonic FGFR2 . nonsynonymous SNV FGFR2:NM_001144914:exon6:c.T805C:p.Y269H,FGFR2:NM_001144916:exon6:c.T796C:p.Y266H,FGFR2:NM_001144918:exon7:c.T796C:p.Y266H,FGFR2:NM_023029:exon7:c.T874C:p.Y292H,FGFR2:NM_001144913:exon8:c.T1144C:p.Y382H,FGFR2:NM_001144915:exon8:c.T874C:p.Y292H,FGFR2:NM_001144919:exon8:c.T877C:p.Y293H,FGFR2:NM_000141:exon9:c.T1141C:p.Y381H,FGFR2:NM_022970:exon9:c.T1144C:p.Y382H 10q26.13 . . 0.028 D 1.0 D 0.996 D 0.000 D 1 D 2.885 M -2.27 D -3.06 D 0.931 6.137 28.4 0.999 0.993 D 0.816 D 0.816 D 0.672 0 5.83 1.062 1.199 1.000 1.000 16.204 Deleterious
810 10 121515280 A G Pathogenic FGFR2 . . . . . . . . . . 10 121515280 121515280 A G exonic FGFR2 . nonsynonymous SNV FGFR2:NM_001144914:exon6:c.A788C:p.Y263S,FGFR2:NM_001144916:exon6:c.A779C:p.Y260S,FGFR2:NM_001144918:exon7:c.A779C:p.Y260S,FGFR2:NM_023029:exon7:c.A857C:p.Y286S,FGFR2:NM_001144913:exon8:c.A1127C:p.Y376S,FGFR2:NM_001144915:exon8:c.A857C:p.Y286S,FGFR2:NM_001144919:exon8:c.A860C:p.Y287S,FGFR2:NM_000141:exon9:c.A1124C:p.Y375S,FGFR2:NM_022970:exon9:c.A1127C:p.Y376S 10q26.13 . . 0.05 D 0.749 P 0.381 B 0.000 D 1 D 2.345 M -2.32 D -4.25 D 0.97 6.184 28.6 0.965 0.990 D 0.371 D 0.646 D 0.672 0 5.83 0.991 1.061 0.998 1.000 16.204 Deleterious
811 10 121520163 C G Pathogenic FGFR2 . . . . . . . . . . 10 121520163 121520163 C G exonic FGFR2 . synonymous SNV FGFR2:NM_001144916:exon4:c.C410C:p.S137S,FGFR2:NM_001144918:exon5:c.C410C:p.S137S,FGFR2:NM_023029:exon5:c.C488C:p.S163S,FGFR2:NM_001144913:exon6:c.C755C:p.S252S,FGFR2:NM_001144915:exon6:c.C488C:p.S163S,FGFR2:NM_001144919:exon6:c.C488C:p.S163S,FGFR2:NM_000141:exon7:c.C755C:p.S252S,FGFR2:NM_001144917:exon7:c.C755C:p.S252S,FGFR2:NM_022970:exon7:c.C755C:p.S252S 10q26.13 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
812 10 125815061 T C Pathogenic UROS . . . . . . . . . . 10 125815061 125815061 T C exonic UROS . nonsynonymous SNV UROS:NM_000375:exon4:c.T217G:p.C73G 10q26.2 . . 0.024 D 0.896 P 0.822 P 0.000 D 1.000 D 1.895 L -2.99 D -5.56 D 0.658 3.512 23.1 0.935 0.792 D 0.532 D 0.782 D 0.732 0 2.96 1.062 1.199 0.835 0.945 8.643 Deleterious
813 11 533553 A G Pathogenic HRAS|LRRC56 . . . . . . . . . . 11 533553 533553 A G exonic HRAS . nonsynonymous SNV HRAS:NM_001130442:exon4:c.A350C:p.K117T,HRAS:NM_005343:exon4:c.A350C:p.K117T,HRAS:NM_176795:exon4:c.A350C:p.K117T 11p15.5 . . 0.0 D 0.999 D 0.988 D 0.000 D 1 D 5.03 H -2.31 D -5.35 D 0.956 5.924 27.6 0.998 0.991 D 0.997 D 0.894 D 0.722 0 4.08 0.991 1.061 0.996 1.000 12.54 Deleterious
814 11 533881 G A Pathogenic/Likely pathogenic HRAS|LRRC56 . . . . . . . . . . 11 533881 533881 G A exonic HRAS . nonsynonymous SNV HRAS:NM_001130442:exon3:c.G175T:p.A59S,HRAS:NM_005343:exon3:c.G175T:p.A59S,HRAS:NM_176795:exon3:c.G175T:p.A59S 11p15.5 . . 0.021 D 0.68 P 0.701 P 0.000 D 1 D 2.71 M -2.4 D -2.69 D 0.604 4.962 25.1 0.996 0.979 D 0.789 D 0.787 D 0.722 0 3.64 0.871 0.852 0.894 0.256 14.843 Deleterious
815 11 534285 G A Pathogenic HRAS|LRRC56 . . . . . . . . . . 11 534285 534285 G A exonic HRAS . nonsynonymous SNV HRAS:NM_001130442:exon2:c.G38T:p.G13V,HRAS:NM_005343:exon2:c.G38T:p.G13V,HRAS:NM_176795:exon2:c.G38T:p.G13V 11p15.5 . rs104894226 0.0 D 0.997 D 0.966 D 0.000 D 1 D 3.515 H -0.81 T -7.61 D 0.923 5.230 25.6 0.996 0.994 D 0.563 D 0.651 D 0.767 0 3.0 0.871 0.852 0.989 0.597 14.152 Deleterious
816 11 534286 G T Pathogenic HRAS|LRRC56 . . . . . . . . . . 11 534286 534286 G T exonic HRAS . nonsynonymous SNV HRAS:NM_001130442:exon2:c.G37A:p.G13S,HRAS:NM_005343:exon2:c.G37A:p.G13S,HRAS:NM_176795:exon2:c.G37A:p.G13S 11p15.5 . rs104894228 0.021 D 0.87 P 0.447 P 0.000 D 1 D 2.12 M -0.69 T -4.93 D 0.725 5.647 26.6 0.997 0.993 D -0.203 T 0.338 T 0.767 0 3.0 0.871 0.852 0.984 0.574 14.152 Tolerated
817 11 534288 G A Pathogenic HRAS|LRRC56 . . . . . . . . . . 11 534288 534288 G A exonic HRAS . nonsynonymous SNV HRAS:NM_001130442:exon2:c.G35T:p.G12V,HRAS:NM_005343:exon2:c.G35T:p.G12V,HRAS:NM_176795:exon2:c.G35T:p.G12V 11p15.5 . rs104894230 0.008 D 0.738 P 0.52 P 0.000 D 1 D 3.08 M -1.2 T -7.18 D 0.92 4.967 25.1 0.994 0.994 D 0.520 D 0.548 D 0.767 0 3.0 0.871 0.852 0.975 0.552 14.152 Deleterious
818 11 534288 G C Pathogenic HRAS|LRRC56 . . . . . . . . . . 11 534288 534288 G C exonic HRAS . synonymous SNV HRAS:NM_001130442:exon2:c.G35G:p.G12G,HRAS:NM_005343:exon2:c.G35G:p.G12G,HRAS:NM_176795:exon2:c.G35G:p.G12G 11p15.5 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
819 11 534288 G T Pathogenic HRAS|LRRC56 . . . . . . . . . . 11 534288 534288 G T exonic HRAS . nonsynonymous SNV HRAS:NM_001130442:exon2:c.G35A:p.G12D,HRAS:NM_005343:exon2:c.G35A:p.G12D,HRAS:NM_176795:exon2:c.G35A:p.G12D 11p15.5 . rs104894230 0.011 D 0.513 P 0.399 B 0.000 D 1 D 3.305 M -1.19 T -5.42 D 0.951 4.754 24.7 0.993 0.993 D 0.357 D 0.559 D 0.767 0 3.0 0.871 0.852 0.975 0.552 14.152 Deleterious
820 11 534289 G T Pathogenic HRAS|LRRC56 . . . . . . . . . . 11 534289 534289 G T exonic HRAS . nonsynonymous SNV HRAS:NM_001130442:exon2:c.G34A:p.G12S,HRAS:NM_005343:exon2:c.G34A:p.G12S,HRAS:NM_176795:exon2:c.G34A:p.G12S 11p15.5 . rs104894229 0.028 D 0.831 P 0.447 P 0.000 D 1 D 1.535 L -1.01 T -4.49 D 0.902 5.636 26.6 0.997 0.993 D -0.174 T 0.370 T 0.767 0 3.0 0.871 0.852 0.973 0.563 14.152 Tolerated
821 11 534289 G A Pathogenic HRAS|LRRC56 . . . . . . . . . . 11 534289 534289 G A exonic HRAS . nonsynonymous SNV HRAS:NM_001130442:exon2:c.G34T:p.G12C,HRAS:NM_005343:exon2:c.G34T:p.G12C,HRAS:NM_176795:exon2:c.G34T:p.G12C 11p15.5 . rs104894229 0.009 D 0.682 P 0.448 P 0.000 D 1 D 2.83 M -1.24 T -7.22 D 0.932 5.765 27.0 0.995 0.994 D 0.438 D 0.512 D 0.767 0 3.0 0.871 0.852 0.973 0.563 14.152 Deleterious
822 11 1841523 G A Pathogenic TNNI2 . . . . . . . . . . 11 1841523 1841523 G A exonic TNNI2 . nonsynonymous SNV TNNI2:NM_001145841:exon6:c.G521A:p.R174Q 11p15.5 . rs104894311 0.002 D 1.0 D 0.981 D 0.000 D 1.000 A 2.7 M -4.46 D -3.25 D 0.797 6.828 33 0.999 0.904 D 1.083 D 0.952 D 0.554 0 2.71 0.917 0.923 0.983 0.999 14.565 Deleterious
823 11 2570719 G A Pathogenic KCNQ1 . . . . . . . . . . 11 2570719 2570719 G A exonic KCNQ1 . nonsynonymous SNV KCNQ1:NM_000218:exon3:c.G569A:p.R190Q,KCNQ1:NM_181798:exon3:c.G188A:p.R63Q 11p15.5 . rs120074178 0.0 D 1.0 D 1.0 D 0.000 D 1.000 D 3.28 M -4.61 D -3.64 D 0.948 7.517 34 1.000 0.987 D 1.092 D 0.965 D 0.646 0 4.4 0.917 0.975 0.991 0.991 16.065 Deleterious
824 11 2571333 G A Pathogenic KCNQ1 . . . . . . . . . . 11 2571333 2571333 G A exonic KCNQ1 . nonsynonymous SNV KCNQ1:NM_000218:exon4:c.G613A:p.V205M,KCNQ1:NM_181798:exon4:c.G232A:p.V78M 11p15.5 7.7e-05 rs151344631 0.001 D 1.0 D 0.998 D 0.000 D 1 D 2.275 M -5.22 D -2.47 N 0.926 6.489 30 0.999 0.989 D 1.097 D 0.965 D 0.583 0 4.46 0.630 0.998 0.914 0.976 16.212 Deleterious
825 11 2572020 C T Pathogenic/Likely pathogenic, not provided KCNQ1 . . . . . . . . . . 11 2572020 2572020 C T exonic KCNQ1 . nonsynonymous SNV KCNQ1:NM_000218:exon5:c.C691T:p.R231C,KCNQ1:NM_181798:exon5:c.C310T:p.R104C 11p15.5 . rs199473457 0.0 D 1.0 D 1.0 D 0.000 D 1 D 3.64 H -6.3 D -7.69 D 0.964 7.155 34 0.999 0.957 D 0.977 D 0.989 D 0.677 0 4.17 0.871 0.892 0.046 0.998 15.560 Deleterious
826 11 2572021 G A Pathogenic KCNQ1 . . . . . . . . . . 11 2572021 2572021 G A exonic KCNQ1 . nonsynonymous SNV KCNQ1:NM_000218:exon5:c.G692A:p.R231H,KCNQ1:NM_181798:exon5:c.G311A:p.R104H 11p15.5 . rs199472709 0.0 D 1.0 D 0.993 D 0.000 D 1.000 D 3.295 M -6.24 D -4.81 D 0.95 6.146 28.4 0.999 0.905 D 1.040 D 0.987 D 0.677 0 3.24 0.069 0.998 0.036 0.998 12.368 Deleterious
827 11 2572056 C T Pathogenic KCNQ1 . . . . . . . . . . 11 2572056 2572056 C T exonic KCNQ1 . nonsynonymous SNV KCNQ1:NM_000218:exon5:c.C727T:p.R243C,KCNQ1:NM_181798:exon5:c.C346T:p.R116C 11p15.5 . rs199472713 0.0 D 1.0 D 0.997 D 0.000 D 1 D 3.62 H -5.23 D -7.78 D 0.974 7.890 35 0.999 0.989 D 1.056 D 0.978 D 0.677 0 4.31 0.871 0.892 0.762 0.998 15.873 Deleterious
828 11 2572089 G A Pathogenic/Likely pathogenic, not provided KCNQ1 . . . . . . . . . . 11 2572089 2572089 G A exonic KCNQ1 . nonsynonymous SNV KCNQ1:NM_000218:exon5:c.G760A:p.V254M,KCNQ1:NM_181798:exon5:c.G379A:p.V127M 11p15.5 . rs120074179 0.0 D 1.0 D 0.999 D 0.000 D 1.000 D 2.32 M -5.05 D -2.92 D 0.925 6.061 28.1 0.999 0.945 D 1.094 D 0.964 D 0.677 0 4.14 0.069 0.998 0.615 0.969 15.515 Deleterious
829 11 2572862 T C Pathogenic/Likely pathogenic, not provided KCNQ1 . . . . . . . . . . 11 2572862 2572862 T C exonic KCNQ1 . nonsynonymous SNV KCNQ1:NM_000218:exon6:c.T797C:p.L266P,KCNQ1:NM_181798:exon6:c.T416C:p.L139P 11p15.5 . rs199473460 0.009 D 1.0 D 1.0 D 0.000 D 1 D 3.36 M -5.41 D -6.7 D 0.996 5.934 27.6 0.999 0.917 D 1.075 D 0.977 D 0.677 0 3.74 0.079 1.011 0.574 1.000 11.733 Deleterious
830 11 2572895 C T Pathogenic/Likely pathogenic, not provided KCNQ1 . . . . . . . . . . 11 2572895 2572895 C T exonic KCNQ1 . nonsynonymous SNV KCNQ1:NM_000218:exon6:c.C830T:p.S277L,KCNQ1:NM_181798:exon6:c.C449T:p.S150L 11p15.5 . rs199472730 0.0 D 1.0 D 1.0 D 0.000 D 1.000 D 3.28 M -4.54 D -5.83 D 0.975 6.716 32 0.999 0.942 D 1.089 D 0.963 D 0.677 0 3.74 0.871 0.892 0.977 0.939 14.657 Deleterious
831 11 2572979 G A Pathogenic KCNQ1 . . . . . . . . . . 11 2572979 2572979 G A exonic KCNQ1 . stopgain KCNQ1:NM_000218:exon6:c.G914A:p.W305X,KCNQ1:NM_181798:exon6:c.G533A:p.W178X 11p15.5 . rs120074186 . . . . . . 0.000 D 1 A . . . . . . . 12.535 39 0.996 0.985 D . . . . 0.583 0 3.9 0.917 0.998 0.950 1.000 15.014 Deleterious (FATHMM)
832 11 2583478 C T Pathogenic/Likely pathogenic, not provided KCNQ1 . . . . . . . . . . 11 2583478 2583478 C T exonic KCNQ1 . nonsynonymous SNV KCNQ1:NM_000218:exon7:c.C965T:p.T322M,KCNQ1:NM_181798:exon7:c.C584T:p.T195M 11p15.5 . rs199472755 0.0 D 1.0 D 1.0 D 0.000 D 1.000 D 3.845 H -4.83 D -5.57 D 0.954 6.841 33 0.999 0.732 D 1.080 D 0.972 D 0.677 0 3.0 0.868 0.925 0.996 1.000 10.889 Deleterious
833 11 2583535 C A Pathogenic KCNQ1 . . . . . . . . . . 11 2583535 2583535 C A exonic KCNQ1 . nonsynonymous SNV KCNQ1:NM_000218:exon7:c.C1022A:p.A341E,KCNQ1:NM_181798:exon7:c.C641A:p.A214E 11p15.5 . rs12720459 0.0 D 1.0 D 0.999 D 0.000 D 1 D 3.63 H -5.16 D -4.68 D 0.991 7.239 34 0.994 0.807 D 1.059 D 0.977 D 0.677 0 3.93 0.868 0.925 0.997 0.948 13.852 Deleterious
834 11 2583545 G A Pathogenic KCNQ1 . . . . . . . . . . 11 2583545 2583545 G A exonic KCNQ1 . synonymous SNV KCNQ1:NM_000218:exon7:c.G1032A:p.A344A,KCNQ1:NM_181798:exon7:c.G651A:p.A217A 11p15.5 . rs1800171 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
835 11 2585245 C T Pathogenic KCNQ1 . . . . . . . . . . 11 2585245 2585245 C T exonic KCNQ1 . stopgain KCNQ1:NM_000218:exon8:c.C1066T:p.Q356X,KCNQ1:NM_181798:exon8:c.C685T:p.Q229X 11p15.5 . rs397508072 . . . . . . 0.000 D 1 A . . . . . . . 13.488 42 0.998 0.924 D . . . . 0.677 0 3.84 0.868 0.881 1.000 0.999 13.702 Deleterious (FATHMM)
836 11 2585275 C T Pathogenic/Likely pathogenic, not provided KCNQ1 . . . . . . . . . . 11 2585275 2585275 C T exonic KCNQ1 . nonsynonymous SNV KCNQ1:NM_000218:exon8:c.C1096T:p.R366W,KCNQ1:NM_181798:exon8:c.C715T:p.R239W 11p15.5 . rs199473411 0.0 D 1.0 D 1.0 D 0.000 D 1.000 D 2.58 M -5.83 D -7.31 D 0.941 7.221 34 0.999 0.596 D 1.105 D 0.977 D 0.677 0 0.65 -0.051 0.000 0.996 0.998 10.702 Deleterious
837 11 2768917 C T Pathogenic KCNQ1 . . . . . . . . . . 11 2768917 2768917 C T exonic KCNQ1 . stopgain KCNQ1:NM_000218:exon12:c.C1588T:p.Q530X,KCNQ1:NM_181798:exon12:c.C1207T:p.Q403X 11p15.5 . rs397508097 . . . . . . 0.000 D 1 A . . . . . . . 14.398 46 0.998 0.875 D . . . . 0.625 0 4.26 0.598 0.935 0.993 0.996 14.567 Deleterious (FATHMM)
838 11 2776006 C T Pathogenic KCNQ1 . . . . . . . . . . 11 2776006 2776006 C T exonic KCNQ1 . nonsynonymous SNV KCNQ1:NM_000218:exon13:c.C1637T:p.S546L,KCNQ1:NM_181798:exon13:c.C1256T:p.S419L 11p15.5 . rs199473480 0.0 D 0.999 D 0.941 D 0.000 D 1.000 D 2.85 M -6.89 D -4.82 D 0.901 7.575 34 0.999 0.964 D 0.979 D 0.989 D 0.610 0 3.78 0.598 0.932 0.985 0.996 13.499 Deleterious
839 11 2776032 C T Pathogenic KCNQ1 . . . . . . . . . . 11 2776032 2776032 C T exonic KCNQ1 . nonsynonymous SNV KCNQ1:NM_000218:exon13:c.C1663T:p.R555C,KCNQ1:NM_181798:exon13:c.C1282T:p.R428C 11p15.5 . rs120074185 0.0 D 1.0 D 1.0 D 0.000 D 1 D 2.86 M -7.5 D -6.83 D 0.951 7.937 35 0.999 0.805 D 0.954 D 0.993 D 0.677 0 3.78 0.871 0.932 0.985 1.000 8.850 Deleterious
840 11 2777000 T C Pathogenic KCNQ1 . . . . . . . . . . 11 2777000 2777000 T C exonic KCNQ1 . nonsynonymous SNV KCNQ1:NM_000218:exon14:c.T1700C:p.I567T,KCNQ1:NM_181798:exon14:c.T1319C:p.I440T 11p15.5 . rs199472805 0.021 D 0.853 P 0.464 P 0.000 D 0.954 D 1.67 L -6.51 D -2.87 D 0.952 5.406 26.0 0.997 0.949 D 1.095 D 0.962 D 0.646 0 4.02 0.079 1.061 0.173 0.993 9.532 Deleterious
841 11 2778003 C T Pathogenic KCNQ1 . . . . . . . . . . 11 2778003 2778003 C T exonic KCNQ1 . nonsynonymous SNV KCNQ1:NM_000218:exon15:c.C1760T:p.T587M,KCNQ1:NM_181798:exon15:c.C1379T:p.T460M 11p15.5 . rs120074189 0.082 T 0.999 D 0.946 D 0.001 N 0.977 A 2.34 M -6.44 D -3.64 D 0.89 4.858 24.9 0.998 0.894 D 1.084 D 0.982 D 0.701 0 2.16 0.868 0.890 0.501 0.312 10.236 Deleterious
842 11 2778005 A T Pathogenic/Likely pathogenic KCNQ1 . . . . . . . . . . 11 2778005 2778005 A T exonic KCNQ1 . nonsynonymous SNV KCNQ1:NM_000218:exon15:c.A1762T:p.I588F,KCNQ1:NM_181798:exon15:c.A1381T:p.I461F 11p15.5 . rs794728536 0.003 D 0.992 D 0.932 D 0.002 N 1.000 D 2.175 M -6.46 D -2.85 D 0.722 5.076 25.3 0.989 0.881 D 1.092 D 0.979 D 0.701 0 1.96 1.058 1.138 0.461 0.126 6.631 Deleterious
843 11 2778024 G A Pathogenic/Likely pathogenic, not provided KCNQ1 . . . . . . . . . . 11 2778024 2778024 G A exonic KCNQ1 . nonsynonymous SNV KCNQ1:NM_000218:exon15:c.G1781A:p.R594Q,KCNQ1:NM_181798:exon15:c.G1400A:p.R467Q 11p15.5 . rs199472815 0.055 T 1.0 D 0.999 D 0.001 N 1.000 D 1.995 M -6.45 D -2.27 N 0.907 5.975 27.7 0.999 0.954 D 1.013 D 0.982 D 0.701 0 3.1 0.626 0.996 0.553 0.794 12.441 Deleterious
844 11 5225832 C G Pathogenic HBB . . . . . . . . . . 11 5225832 5225832 C G intronic HBB . . . 11p15.4 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . probably Tolerated (Intron)
845 11 5226774 C T Pathogenic HBB . . . . . . . . . . 11 5226774 5226774 C T exonic HBB . nonsynonymous SNV HBB:NM_000518:exon2:c.C118A:p.Q40K 11p15.4 . rs11549407 0.002 D 0.83 P 0.78 P . . 1.000 D 0.82 L -2.9 D -3.43 D 0.768 4.085 23.7 0.996 0.874 D 0.556 D 0.731 D 0.487 0 4.13 -0.045 1.048 0.904 1.000 14.385 Deleterious
846 11 5226925 G A Pathogenic/Likely pathogenic HBB . . . . . . . . . . 11 5226925 5226925 G A intronic HBB . . . 11p15.4 . rs33915217 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . probably Tolerated (Intron)
847 11 5227002 A T Pathogenic, other, protective HBB . . . . . . . . . . 11 5227002 5227002 A T exonic HBB . synonymous SNV HBB:NM_000518:exon1:c.A20A:p.E7E 11p15.4 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
848 11 5227003 G A Pathogenic, protective HBB . . . . . . . . . . 11 5227003 5227003 G A exonic HBB . stopgain HBB:NM_000518:exon1:c.G19T:p.E7X 11p15.4 . . . . . . . . . . 1 A . . . . . . . 7.561 34 0.993 0.471 N . . . . 0.487 0 5.24 0.871 0.935 0.842 0.033 17.913 Deleterious (DANN)
849 11 6393680 C T Pathogenic SMPD1 . . . . . . . . . . 11 6393680 6393680 C T exonic SMPD1 . stopgain SMPD1:NM_000543:exon4:c.C1327T:p.R443X,SMPD1:NM_001007593:exon4:c.C1324T:p.R442X 11p15.4 . rs120074127 . . . . . . 0.008 N 1 A . . . . . . . 12.735 40 0.998 0.983 D . . . . 0.732 0 1.65 -0.022 0.020 0.985 0.943 12.363 Deleterious (FATHMM)
850 11 6393981 C T Pathogenic/Likely pathogenic SMPD1 . . . . . . . . . . 11 6393981 6393981 C T exonic SMPD1 . nonsynonymous SNV SMPD1:NM_000543:exon5:c.C1426T:p.R476W,SMPD1:NM_001007593:exon5:c.C1423T:p.R475W 11p15.4 . rs182812968 0.0 D 1.0 D 0.999 D 0.000 D 1 D 3.03 M -3.27 D -7.11 D 0.966 8.270 35 0.999 0.932 D 1.027 D 0.905 D 0.707 0 4.74 0.871 0.935 0.994 0.974 16.466 Deleterious
851 11 6615217 G A Pathogenic/Likely pathogenic TPP1 . . . . . . . . . . 11 6615217 6615217 G A exonic TPP1 . nonsynonymous SNV TPP1:NM_000391:exon11:c.G1379T:p.W460L 11p15.4 . . 1.0 T 0.9 P 0.383 B 0.000 D 1 D 1.28 L -2.96 D -4.24 D 0.962 3.506 23.1 0.969 0.986 D 0.140 D 0.629 D 0.707 0 5.25 0.871 0.852 1.000 1.000 16.349 Deleterious
852 11 6615442 G C Pathogenic TPP1 . . . . . . . . . . 11 6615442 6615442 G C exonic TPP1 . synonymous SNV TPP1:NM_000391:exon10:c.G1266G:p.Q422Q 11p15.4 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
853 11 6616056 G A Pathogenic/Likely pathogenic, not provided TPP1 . . . . . . . . . . 11 6616056 6616056 G A exonic TPP1 . nonsynonymous SNV TPP1:NM_000391:exon9:c.G1094T:p.C365F 11p15.4 . . 0.003 D 1.0 D 0.999 D 0.000 D 1 D 3.5 M -3.0 D -8.9 D 0.978 6.621 32 0.990 0.979 D 1.047 D 0.913 D 0.732 0 5.56 0.871 0.935 0.997 1.000 18.513 Deleterious
854 11 6616714 A G Pathogenic TPP1 . . . . . . . . . . 11 6616714 6616714 A G exonic TPP1 . nonsynonymous SNV TPP1:NM_000391:exon7:c.A833C:p.Q278P 11p15.4 . . 0.004 D 0.997 D 0.958 D 0.042 N 0.997 D 3.355 M -5.41 D -4.55 D 0.848 5.044 25.2 0.994 0.972 D 1.079 D 0.977 D 0.722 0 4.48 0.991 0.952 0.996 0.998 12.600 Deleterious
855 11 6617040 C T Pathogenic TPP1 . . . . . . . . . . 11 6617040 6617040 C T exonic TPP1 . synonymous SNV TPP1:NM_000391:exon6:c.C622A:p.R208R 11p15.4 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
856 11 6617154 G C Pathogenic TPP1 . . . . . . . . . . 11 6617154 6617154 G C splicing TPP1 NM_000391:exon6:c.509-1C>G . . 11p15.4 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .
857 11 6617695 T A Pathogenic TPP1 . . . . . . . . . . 11 6617695 6617695 T A exonic TPP1 . synonymous SNV TPP1:NM_000391:exon4:c.T311T:p.L104L 11p15.4 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
858 11 17387917 G A Pathogenic KCNJ11 . . . . . . . . . . 11 17387917 17387917 G A exonic KCNJ11 . nonsynonymous SNV KCNJ11:NM_000525:exon1:c.G175T:p.V59L 11p15.1 . . 0.371 T 0.926 P 0.69 P 0.000 D 1 D 0.22 N -3.06 D -0.39 N 0.76 4.681 24.6 0.992 0.914 D 0.208 D 0.645 D 0.718 0 4.57 0.871 0.852 0.989 0.998 16.962 Deleterious
859 11 17395611 C T Pathogenic/Likely pathogenic ABCC8 . . . . . . . . . . 11 17395611 17395611 C T exonic ABCC8 . synonymous SNV ABCC8:NM_000352:exon35:c.C4306A:p.R1436R,ABCC8:NM_001287174:exon35:c.C4309A:p.R1437R 11p15.1 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
860 11 17397055 G A Pathogenic ABCC8 . . . . . . . . . . 11 17397055 17397055 G A intronic ABCC8 . . . 11p15.1 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . probably Tolerated (Intron)
861 11 17404524 G A Pathogenic/Likely pathogenic ABCC8 . . . . . . . . . . 11 17404524 17404524 G A exonic ABCC8 . nonsynonymous SNV ABCC8:NM_000352:exon28:c.G3545T:p.R1182L,ABCC8:NM_001287174:exon28:c.G3548T:p.R1183L 11p15.1 . rs193922400 1.0 T 0.004 B 0.007 B 0.000 D 1 D 1.075 L -2.47 D -1.2 N 0.977 4.534 24.3 0.998 0.948 D -0.214 T 0.544 D 0.615 0 5.32 0.871 0.834 1.000 0.995 19.006 Deleterious
862 11 17531431 G A Pathogenic USH1C . . . . . . . . . . 11 17531431 17531431 G A exonic USH1C . synonymous SNV USH1C:NM_001297764:exon3:c.G216T:p.V72V,USH1C:NM_005709:exon3:c.G216T:p.V72V,USH1C:NM_153676:exon3:c.G216T:p.V72V 11p15.1 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
863 11 19188281 A C Pathogenic/Likely pathogenic CSRP3 . . . . . . . . . . 11 19188281 19188281 A C exonic CSRP3 . nonsynonymous SNV CSRP3:NM_003476:exon4:c.A136G:p.S46G 11p15.1 . . 0.0 D 1.0 D 1.0 D 0.000 D 1 D 1.335 L -2.82 D -3.8 D 0.622 5.289 25.7 0.999 0.979 D 0.693 D 0.783 D 0.487 0 5.64 0.991 1.061 0.999 0.997 15.531 Deleterious
864 11 22203803 G A Pathogenic ANO5 . . . . . . . . . . 11 22203803 22203803 G A splicing ANO5 NM_213599:exon2:c.41-1G>A,NM_001142649:exon2:c.41-1G>A . . 11p14.3 . rs398124625 . . . . . . . . 1 D . . . . . . . 2.657 20.6 0.964 0.924 D . . . . 0.075 0 4.02 0.630 1.048 0.216 0.647 11.964 Deleterious (FATHMM)
865 11 22218279 C T Pathogenic/Likely pathogenic ANO5 . . . . . . . . . . 11 22218279 22218279 C T exonic ANO5 . nonsynonymous SNV ANO5:NM_001142649:exon4:c.C169T:p.R57W,ANO5:NM_213599:exon4:c.C172T:p.R58W 11p14.3 7.7e-05 rs201725369 0.006 D 1.0 D 0.998 D 0.000 D 0.999 D 1.905 M -0.67 T -3.08 D 0.9 8.343 35 0.999 0.958 D 0.025 D 0.530 D 0.487 0 5.87 0.871 0.852 0.997 0.993 20.219 Deleterious
866 11 22236206 G T Pathogenic ANO5 . . . . . . . . . . 11 22236206 22236206 G T exonic ANO5 . nonsynonymous SNV ANO5:NM_001142649:exon8:c.G689T:p.G230V,ANO5:NM_213599:exon8:c.G692T:p.G231V 11p14.3 0.0008 rs137854523 0.07 T 0.997 D 0.953 D 0.000 D 1 A 2.14 M -0.25 T -5.26 D 0.811 5.011 25.1 0.998 0.972 D -0.288 T 0.473 T 0.554 0 5.77 0.917 1.048 0.952 0.986 20.347 Tolerated
867 11 22236277 G A Pathogenic ANO5 . . . . . . . . . . 11 22236277 22236277 G A splicing ANO5 NM_213599:exon8:c.762+1G>A,NM_001142649:exon8:c.759+1G>A . . 11p14.3 7.7e-05 rs372221490 . . . . . . . . 1 D . . . . . . . 5.296 25.7 0.995 0.992 D . . . . 0.075 0 5.64 0.917 1.048 0.977 0.794 20.063 Deleterious (FATHMM)
868 11 22255400 C T Pathogenic ANO5 . . . . . . . . . . 11 22255400 22255400 C T exonic ANO5 . stopgain ANO5:NM_001142649:exon13:c.C1207T:p.R403X,ANO5:NM_213599:exon13:c.C1210T:p.R404X 11p14.3 . rs566415362 . . . . . . 0.000 D 1 A . . . . . . . 14.271 45 0.998 0.958 D . . . . 0.615 0 5.11 0.871 0.044 0.994 0.987 18.535 Deleterious (FATHMM)
869 11 22274605 C T Pathogenic ANO5 . . . . . . . . . . 11 22274605 22274605 C T exonic ANO5 . nonsynonymous SNV ANO5:NM_001142649:exon20:c.C2269T:p.R757C,ANO5:NM_213599:exon20:c.C2272T:p.R758C 11p14.3 . rs137854529 0.0 D 1.0 D 0.996 D 0.000 D 1 A 3.62 H -1.03 T -7.34 D 0.93 7.177 34 0.999 0.972 D 0.738 D 0.748 D 0.638 0 5.24 0.871 0.935 0.987 0.926 19.241 Deleterious
870 11 31789935 A T Pathogenic PAX6 . . . . . . . . . . 11 31789935 31789935 A T exonic PAX6 . synonymous SNV PAX6:NM_001310160:exon10:c.A860A:p.X287X,PAX6:NM_001310161:exon11:c.A860A:p.X287X,PAX6:NM_001258465:exon12:c.A1268A:p.X423X,PAX6:NM_000280:exon13:c.A1268A:p.X423X,PAX6:NM_001127612:exon13:c.A1268A:p.X423X,PAX6:NM_001258464:exon13:c.A1268A:p.X423X,PAX6:NM_001258462:exon14:c.A1310A:p.X437X,PAX6:NM_001258463:exon14:c.A1310A:p.X437X,PAX6:NM_001310158:exon14:c.A1310A:p.X437X,PAX6:NM_001604:exon14:c.A1310A:p.X437X 11p13 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
871 11 36573626 C T Pathogenic/Likely pathogenic RAG1 . . . . . . . . . . 11 36573626 36573626 C T exonic RAG1 . stopgain RAG1:NM_000448:exon2:c.C322T:p.R108X 11p12 7.7e-05 rs193922464 . . . . . . 0.012 N 1 D . . . . . . . 7.548 34 0.997 0.867 D . . . . 0.549 0 3.2 -0.022 -0.420 0.952 0.114 10.060 Deleterious (FATHMM)
872 11 47331882 G A Pathogenic/Likely pathogenic MYBPC3 . . . . . . . . . . 11 47331882 47331882 G A splicing MYBPC3 NM_000256:exon33:c.3815-1C>T . . 11p11.2 . . . . . . . . . . 1 D . . . . . . . 5.269 25.7 0.986 0.690 D . . . . 0.060 0 4.43 0.871 0.925 0.983 0.950 9.295 Deleterious (FATHMM)
873 11 47332075 C T Pathogenic/Likely pathogenic MYBPC3 . . . . . . . . . . 11 47332075 47332075 C T exonic MYBPC3 . synonymous SNV MYBPC3:NM_000256:exon32:c.C3811A:p.R1271R 11p11.2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
874 11 47332189 C T Pathogenic/Likely pathogenic MYBPC3 . . . . . . . . . . 11 47332189 47332189 C T exonic MYBPC3 . nonsynonymous SNV MYBPC3:NM_000256:exon32:c.C3697A:p.Q1233K 11p11.2 . . 0.007 D 0.854 P 0.85 P . . 1.000 D 0.58 N -0.7 T -3.11 D 0.377 5.594 26.5 0.994 0.978 D -0.306 T 0.342 T 0.581 0 4.54 0.917 1.036 1.000 0.997 15.287 Tolerated
875 11 47332244 G A Pathogenic/Likely pathogenic MYBPC3 . . . . . . . . . . 11 47332244 47332244 G A exonic MYBPC3 . nonsynonymous SNV MYBPC3:NM_000256:exon32:c.G3642T:p.W1214C 11p11.2 . . 0.0 D 1.0 D 1.0 D . . 1 D 4.55 H -3.97 D -11.86 D 0.989 7.792 35 0.993 0.983 D 1.076 D 0.970 D 0.581 0 5.46 0.871 0.925 1.000 1.000 18.077 Deleterious
876 11 47332245 G A Pathogenic MYBPC3 . . . . . . . . . . 11 47332245 47332245 G A exonic MYBPC3 . nonsynonymous SNV MYBPC3:NM_000256:exon32:c.G3641T:p.W1214L 11p11.2 . . 0.0 D 1.0 D 1.0 D . . 1 D 3.655 H -3.96 D -11.86 D 0.957 7.657 35 0.988 0.989 D 1.100 D 0.958 D 0.403 0 5.46 0.871 0.925 1.000 1.000 18.077 Deleterious
877 11 47332565 G A Pathogenic MYBPC3 . . . . . . . . . . 11 47332565 47332565 G A splicing MYBPC3 NM_000256:exon31:c.3627+1C>T . . 11p11.2 . . . . . . . . . . 1 D . . . . . . . 6.112 28.3 0.995 0.995 D . . . . 0.057 0 5.34 0.871 0.920 0.944 0.958 17.819 Deleterious (FATHMM)
878 11 47332704 A T Pathogenic MYBPC3 . . . . . . . . . . 11 47332704 47332704 A T splicing MYBPC3 NM_000256:exon31:c.3491-2T>A . . 11p11.2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .
879 11 47332896 C A Pathogenic MYBPC3 . . . . . . . . . . 11 47332896 47332896 C A exonic MYBPC3 . synonymous SNV MYBPC3:NM_000256:exon30:c.C3408T:p.Y1136Y 11p11.2 . rs193922383 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
880 11 47332975 A C Pathogenic/Likely pathogenic MYBPC3 . . . . . . . . . . 11 47332975 47332975 A C splicing MYBPC3 NM_000256:exon30:c.3331-2T>G . . 11p11.2 . . . . . . . . . . 1 D . . . . . . . 4.964 25.1 0.995 0.985 D . . . . 0.057 0 5.49 0.991 1.044 0.815 0.991 14.558 Deleterious (FATHMM)
881 11 47333189 G T Pathogenic/Likely pathogenic MYBPC3 . . . . . . . . . . 11 47333189 47333189 G T intronic MYBPC3 . . . 11p11.2 . rs373746463 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . probably Tolerated (Intron)
882 11 47333189 G C Pathogenic/Likely pathogenic MYBPC3 . . . . . . . . . . 11 47333189 47333189 G C intronic MYBPC3 . . . 11p11.2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . probably Tolerated (Intron)
883 11 47333192 T G Pathogenic/Likely pathogenic MYBPC3 . . . . . . . . . . 11 47333192 47333192 T G splicing MYBPC3 NM_000256:exon29:c.3330+2A>C . . 11p11.2 . rs387906397 . . . . . . . . 1 D . . . . . . . 5.128 25.4 0.994 0.993 D . . . . 0.078 0 5.36 1.062 1.120 0.949 0.991 14.320 Deleterious (FATHMM)
884 11 47333238 G T Pathogenic/Likely pathogenic MYBPC3 . . . . . . . . . . 11 47333238 47333238 G T exonic MYBPC3 . nonsynonymous SNV MYBPC3:NM_000256:exon29:c.G3286A:p.E1096K 11p11.2 . rs121909377 0.035 D 0.815 P 0.643 P . . 0.999 D 2.66 M 0.35 T -2.39 N 0.582 6.527 31 0.999 0.967 D -0.478 T 0.283 T 0.554 0 5.36 0.871 0.876 0.982 0.966 14.171 Tolerated
885 11 47333271 G T Pathogenic/Likely pathogenic MYBPC3 . . . . . . . . . . 11 47333271 47333271 G T exonic MYBPC3 . nonsynonymous SNV MYBPC3:NM_000256:exon29:c.G3253A:p.E1085K 11p11.2 . . 0.184 T 0.887 P 0.775 P . . 1 D 1.81 L 0.4 T -2.65 D 0.949 6.353 29.4 0.999 0.975 D -0.721 T 0.262 T 0.554 0 5.36 0.871 0.876 1.000 1.000 17.842 Tolerated
886 11 47333552 G A Pathogenic/Likely pathogenic MYBPC3 . . . . . . . . . . 11 47333552 47333552 G A intronic MYBPC3 . . . 11p11.2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . probably Tolerated (Intron)
887 11 47333555 T G Pathogenic MYBPC3 . . . . . . . . . . 11 47333555 47333555 T G splicing MYBPC3 NM_000256:exon28:c.3190+2A>C . . 11p11.2 . rs113358486 . . . . . . . . 1 D . . . . . . . 3.662 23.2 0.983 0.962 D . . . . 0.054 0 4.02 1.062 1.120 0.523 0.128 10.693 Deleterious (FATHMM)
888 11 47333556 G A Pathogenic/Likely pathogenic MYBPC3 . . . . . . . . . . 11 47333556 47333556 G A splicing MYBPC3 NM_000256:exon28:c.3190+1C>T . . 11p11.2 . . . . . . . . . . 1 D . . . . . . . 4.808 24.8 0.990 0.995 D . . . . 0.054 0 5.22 0.871 0.876 0.546 0.119 18.381 Deleterious (FATHMM)
889 11 47333566 C T Pathogenic MYBPC3 . . . . . . . . . . 11 47333566 47333566 C T exonic MYBPC3 . nonsynonymous SNV MYBPC3:NM_000256:exon28:c.C3181A:p.Q1061K 11p11.2 . . 0.196 T 0.04 B 0.181 B . . 0.999 D 1.375 L -0.2 T -2.63 D 0.524 2.104 16.88 0.972 0.989 D -0.727 T 0.224 T 0.517 0 4.25 0.917 0.981 0.987 0.901 14.883 Tolerated
890 11 47333996 C T Pathogenic MYBPC3 . . . . . . . . . . 11 47333996 47333996 C T exonic MYBPC3 . nonsynonymous SNV MYBPC3:NM_000256:exon27:c.C2920A:p.Q974K 11p11.2 . . 0.289 T 0.018 B 0.011 B . . 0.808 N -0.145 N 0.45 T -0.24 N 0.167 2.791 21.3 0.985 0.919 D -1.065 T 0.071 T 0.403 0 5.12 0.917 1.031 0.983 0.929 6.535 Tolerated
891 11 47335042 C T Pathogenic MYBPC3 . . . . . . . . . . 11 47335042 47335042 C T exonic MYBPC3 . nonsynonymous SNV MYBPC3:NM_000256:exon26:c.C2905A:p.Q969K 11p11.2 . . 0.026 D 0.152 B 0.177 B . . 1.000 D 1.52 L 0.42 T -2.06 N 0.354 4.055 23.7 0.987 0.965 D -0.968 T 0.144 T 0.403 0 3.14 -0.044 0.088 0.994 0.996 12.144 Tolerated
892 11 47335120 C T Pathogenic/Likely pathogenic MYBPC3 . . . . . . . . . . 11 47335120 47335120 C T exonic MYBPC3 . synonymous SNV MYBPC3:NM_000256:exon26:c.C2827A:p.R943R 11p11.2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
893 11 47335944 G A Pathogenic/Likely pathogenic MYBPC3 . . . . . . . . . . 11 47335944 47335944 G A exonic MYBPC3 . nonsynonymous SNV MYBPC3:NM_000256:exon25:c.G2670T:p.W890C 11p11.2 . . 0.0 D 1.0 D 1.0 D . . 1 D 4.585 H -2.1 D -11.88 D 0.992 7.353 34 0.993 0.966 D 1.079 D 0.898 D 0.554 0 5.28 0.871 0.841 0.999 0.999 18.921 Deleterious
894 11 47337452 C G Pathogenic/Likely pathogenic MYBPC3 . . . . . . . . . . 11 47337452 47337452 C G exonic MYBPC3 . synonymous SNV MYBPC3:NM_000256:exon24:c.C2541C:p.Y847Y 11p11.2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
895 11 47337539 G A Pathogenic MYBPC3 . . . . . . . . . . 11 47337539 47337539 G A exonic MYBPC3 . nonsynonymous SNV MYBPC3:NM_000256:exon24:c.G2454T:p.W818C 11p11.2 . . 0.0 D 0.994 D 0.957 D . . 1 D 3.87 H 0.3 T -11.74 D 0.951 7.357 34 0.992 0.948 D 0.402 D 0.532 D 0.554 0 4.6 0.871 0.932 1.000 0.996 17.626 Deleterious
896 11 47337712 C A Pathogenic/Likely pathogenic MYBPC3 . . . . . . . . . . 11 47337712 47337712 C A exonic MYBPC3 . synonymous SNV MYBPC3:NM_000256:exon23:c.C2391T:p.Y797Y 11p11.2 . rs727504864 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
897 11 47337729 T C Pathogenic/Likely pathogenic MYBPC3 . . . . . . . . . . 11 47337729 47337729 T C exonic MYBPC3 . nonsynonymous SNV MYBPC3:NM_000256:exon23:c.T2374G:p.W792G 11p11.2 . rs187830361 0.0 D 1.0 D 0.997 D . . 1.000 D 4.465 H -1.82 D -11.15 D 0.984 5.367 25.9 0.977 0.952 D 0.888 D 0.846 D 0.403 0 3.99 1.062 1.108 0.996 0.860 11.030 Deleterious
898 11 47337796 A G Pathogenic/Likely pathogenic MYBPC3 . . . . . . . . . . 11 47337796 47337796 A G splicing MYBPC3 NM_000256:exon23:c.2309-2T>C . . 11p11.2 . rs111729952 . . . . . . . . 1 D . . . . . . . 3.577 23.2 0.983 0.997 D . . . . 0.057 0 4.66 0.991 0.982 0.340 0.185 13.428 Deleterious (FATHMM)
899 11 47338519 G T Pathogenic MYBPC3 . . . . . . . . . . 11 47338519 47338519 G T splicing MYBPC3 NM_000256:exon22:c.2308+1C>A . . 11p11.2 8e-05 rs112738974 . . . . . . . . 1 D . . . . . . . 5.910 27.5 0.995 0.987 D . . . . 0.057 0 5.4 0.871 0.932 0.987 0.995 19.209 Deleterious (FATHMM)
900 11 47338519 G A Pathogenic MYBPC3 . . . . . . . . . . 11 47338519 47338519 G A splicing MYBPC3 NM_000256:exon22:c.2308+1C>T . . 11p11.2 . rs112738974 . . . . . . . . 1 D . . . . . . . 5.917 27.5 0.995 0.990 D . . . . 0.057 0 5.4 0.871 0.932 0.987 0.995 19.209 Deleterious (FATHMM)
901 11 47338520 G A Pathogenic/Likely pathogenic MYBPC3 . . . . . . . . . . 11 47338520 47338520 G A exonic MYBPC3 . nonsynonymous SNV MYBPC3:NM_000256:exon22:c.G2308T:p.D770Y 11p11.2 . . 0.0 D 0.999 D 0.979 D . . 1 D 3.69 H 0.29 T -7.22 D 0.765 7.574 34 0.994 0.990 D 0.319 D 0.532 D 0.403 0 5.4 0.871 0.932 0.992 0.997 19.209 Deleterious
902 11 47338646 G T Pathogenic MYBPC3 . . . . . . . . . . 11 47338646 47338646 G T exonic MYBPC3 . nonsynonymous SNV MYBPC3:NM_000256:exon22:c.G2182A:p.E728K 11p11.2 . . 0.073 T 0.577 P 0.729 P . . 1 D 1.465 L -0.18 T -3.45 D 0.928 6.196 28.7 0.999 0.993 D -0.370 T 0.354 T 0.554 0 5.4 0.871 0.935 0.999 0.993 19.209 Tolerated
903 11 47339653 C T Pathogenic/Likely pathogenic MYBPC3 . . . . . . . . . . 11 47339653 47339653 C T exonic MYBPC3 . nonsynonymous SNV MYBPC3:NM_000256:exon20:c.C2065A:p.Q689K 11p11.2 . . 0.775 T 0.0 B 0.001 B . . 0.582 N -0.69 N 0.47 T -0.3 N 0.117 0.162 4.278 0.386 0.727 D -1.020 T 0.058 T 0.403 0 2.95 0.917 1.048 0.616 0.149 9.876 Tolerated
904 11 47339670 G A Pathogenic/Likely pathogenic MYBPC3 . . . . . . . . . . 11 47339670 47339670 G A exonic MYBPC3 . nonsynonymous SNV MYBPC3:NM_000256:exon20:c.G2048T:p.W683L 11p11.2 . . 0.001 D 1.0 D 0.999 D . . 1 D 3.42 M -3.96 D -10.89 D 0.901 7.304 34 0.987 0.982 D 1.100 D 0.954 D 0.403 0 4.9 0.871 0.935 0.942 0.998 18.259 Deleterious
905 11 47339792 A G Pathogenic MYBPC3 . . . . . . . . . . 11 47339792 47339792 A G splicing MYBPC3 NM_000256:exon20:c.1928-2T>C . . 11p11.2 . . . . . . . . . . 1 D . . . . . . . 4.316 24.0 0.994 0.979 D . . . . 0.057 0 4.9 0.991 1.061 0.871 0.887 14.684 Deleterious (FATHMM)
906 11 47341137 G A Pathogenic MYBPC3 . . . . . . . . . . 11 47341137 47341137 G A splicing MYBPC3 NM_000256:exon18:c.1897+1C>T . . 11p11.2 . . . . . . . . . . 1 D . . . . . . . 5.941 27.6 0.995 0.995 D . . . . 0.057 0 4.9 0.871 0.935 0.997 0.997 18.266 Deleterious (FATHMM)
907 11 47342574 A T Pathogenic/Likely pathogenic MYBPC3 . . . . . . . . . . 11 47342574 47342574 A T intronic MYBPC3 . . . 11p11.2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . probably Tolerated (Intron)
908 11 47342576 T C Pathogenic MYBPC3 . . . . . . . . . . 11 47342576 47342576 T C splicing MYBPC3 NM_000256:exon16:c.1624+2A>G . . 11p11.2 . . . . . . . . . . 1 D . . . . . . . 3.254 22.8 0.979 0.973 D . . . . 0.057 0 3.49 1.062 1.199 0.973 0.924 10.017 Deleterious (FATHMM)
909 11 47342578 G C Pathogenic/Likely pathogenic MYBPC3 . . . . . . . . . . 11 47342578 47342578 G C exonic MYBPC3 . synonymous SNV MYBPC3:NM_000256:exon16:c.G1624G:p.E542E 11p11.2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
910 11 47342627 T G Pathogenic/Likely pathogenic MYBPC3 . . . . . . . . . . 11 47342627 47342627 T G exonic MYBPC3 . synonymous SNV MYBPC3:NM_000256:exon16:c.T1575C:p.Y525Y 11p11.2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
911 11 47342697 G A Pathogenic/Likely pathogenic MYBPC3 . . . . . . . . . . 11 47342697 47342697 G A exonic MYBPC3 . nonsynonymous SNV MYBPC3:NM_000256:exon16:c.G1505T:p.R502L 11p11.2 . rs397515907 0.003 D 0.597 P 0.678 P . . 1.000 D 2.4 M -0.26 T -5.78 D 0.911 7.774 35 0.998 0.988 D -0.042 T 0.447 T 0.403 0 4.63 0.871 0.935 0.999 1.000 17.644 Tolerated
912 11 47342718 G A Pathogenic/Likely pathogenic MYBPC3 . . . . . . . . . . 11 47342718 47342718 G A exonic MYBPC3 . nonsynonymous SNV MYBPC3:NM_000256:exon16:c.G1484T:p.R495L 11p11.2 . . 0.177 T 0.118 B 0.224 B . . 1.000 D 1.255 L -0.25 T -4.39 D 0.895 6.459 29.9 0.997 0.979 D -0.629 T 0.268 T 0.554 0 4.63 0.871 0.935 0.993 0.995 17.644 Tolerated
913 11 47342719 C G Pathogenic/Likely pathogenic MYBPC3 . . . . . . . . . . 11 47342719 47342719 C G exonic MYBPC3 . synonymous SNV MYBPC3:NM_000256:exon16:c.C1483C:p.R495R 11p11.2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
914 11 47342745 G A Pathogenic MYBPC3 . . . . . . . . . . 11 47342745 47342745 G A splicing MYBPC3 NM_000256:exon16:c.1458-1C>T . . 11p11.2 . . . . . . . . . . 1 D . . . . . . . 5.309 25.8 0.994 0.987 D . . . . 0.078 0 4.63 0.871 0.935 0.997 0.959 17.644 Deleterious (FATHMM)
915 11 47343019 T C Pathogenic MYBPC3 . . . . . . . . . . 11 47343019 47343019 T C splicing MYBPC3 NM_000256:exon14:c.1351+2A>G . . 11p11.2 . . . . . . . . . . 1 D . . . . . . . 3.169 22.7 0.966 0.993 D . . . . 0.057 0 3.71 0.126 1.199 0.778 0.988 10.488 Deleterious (FATHMM)
916 11 47343020 G A Pathogenic/Likely pathogenic MYBPC3 . . . . . . . . . . 11 47343020 47343020 G A splicing MYBPC3 NM_000256:exon14:c.1351+1C>T . . 11p11.2 . . . . . . . . . . 1 D . . . . . . . 4.257 23.9 0.986 0.996 D . . . . 0.057 0 4.87 0.871 0.935 0.885 0.995 17.791 Deleterious (FATHMM)
917 11 47343147 A G Pathogenic/Likely pathogenic MYBPC3 . . . . . . . . . . 11 47343147 47343147 A G exonic MYBPC3 . synonymous SNV MYBPC3:NM_000256:exon14:c.A1225C:p.R409R 11p11.2 . . . . . . . . . . 1 D . . . . . . . 4.246 23.9 0.994 0.986 D . . . . 0.057 0 4.72 0.991 1.061 0.941 0.898 14.026 Deleterious (FATHMM)
918 11 47343505 C T Pathogenic MYBPC3 . . . . . . . . . . 11 47343505 47343505 C T exonic MYBPC3 . nonsynonymous SNV MYBPC3:NM_000256:exon13:c.C1210A:p.Q404K 11p11.2 . . 0.837 T 0.015 B 0.03 B . . 0.833 D -0.495 N -0.15 T 0.2 N 0.359 1.303 12.28 0.629 0.902 D -0.980 T 0.093 T 0.517 0 4.99 0.913 1.043 1.000 1.000 13.444 Tolerated
919 11 47346206 G T Pathogenic/Likely pathogenic MYBPC3 . . . . . . . . . . 11 47346206 47346206 G T splicing MYBPC3 NM_000256:exon12:c.1090+1C>A . . 11p11.2 . rs727504269 . . . . . . . . 1 D . . . . . . . 5.855 27.3 0.994 0.992 D . . . . 0.057 0 4.7 0.871 0.935 0.939 0.949 17.827 Deleterious (FATHMM)
920 11 47346206 G A Pathogenic/Likely pathogenic MYBPC3 . . . . . . . . . . 11 47346206 47346206 G A splicing MYBPC3 NM_000256:exon12:c.1090+1C>T . . 11p11.2 . rs727504269 . . . . . . . . 1 D . . . . . . . 6.173 28.6 0.994 0.993 D . . . . 0.057 0 4.7 0.871 0.935 0.939 0.949 17.827 Deleterious (FATHMM)
921 11 47346297 G T Pathogenic/Likely pathogenic MYBPC3 . . . . . . . . . . 11 47346297 47346297 G T exonic MYBPC3 . nonsynonymous SNV MYBPC3:NM_000256:exon12:c.G1000A:p.E334K 11p11.2 . rs573916965 0.002 D 0.874 P 0.334 B . . 1 D 2.73 M -0.32 T -3.56 D 0.96 4.875 24.9 0.999 0.992 D -0.027 T 0.385 T 0.570 0 4.7 0.853 0.934 0.978 0.985 17.827 Tolerated
922 11 47346298 C G Pathogenic MYBPC3 . . . . . . . . . . 11 47346298 47346298 C G exonic MYBPC3 . synonymous SNV MYBPC3:NM_000256:exon12:c.C999C:p.Y333Y 11p11.2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
923 11 47346331 G A Pathogenic MYBPC3 . . . . . . . . . . 11 47346331 47346331 G A exonic MYBPC3 . nonsynonymous SNV MYBPC3:NM_000256:exon12:c.G966T:p.W322C 11p11.2 . . 0.001 D 0.998 D 0.95 D . . 1 D 2.585 M 0.18 T -11.7 D 0.833 6.920 33 0.993 0.989 D -0.068 T 0.414 T 0.570 0 4.7 0.853 0.934 0.999 0.998 17.827 Tolerated
924 11 47346365 C A Pathogenic/Likely pathogenic MYBPC3 . . . . . . . . . . 11 47346365 47346365 C A exonic MYBPC3 . nonsynonymous SNV MYBPC3:NM_000256:exon12:c.C932T:p.S311L 11p11.2 . rs193922386 0.18 T 0.045 B 0.007 B . . 0.993 N 0.345 N 0.36 T -1.08 N 0.72 3.057 22.4 0.997 0.188 N -1.001 T 0.118 T 0.570 0 4.4 0.897 0.951 0.990 0.972 13.689 Tolerated
925 11 47346372 A G Pathogenic MYBPC3 . . . . . . . . . . 11 47346372 47346372 A G splicing MYBPC3 NM_000256:exon12:c.927-2T>C . . 11p11.2 . . . . . . . . . . 1 D . . . . . . . 4.198 23.9 0.970 0.882 D . . . . 0.057 0 4.4 0.877 0.963 0.976 0.962 11.607 Deleterious (FATHMM)
926 11 47346379 G A Pathogenic/Likely pathogenic MYBPC3 . . . . . . . . . . 11 47346379 47346379 G A intronic MYBPC3 . . . 11p11.2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . probably Tolerated (Intron)
927 11 47347852 G A Pathogenic/Likely pathogenic MYBPC3 . . . . . . . . . . 11 47347852 47347852 G A intronic MYBPC3 . . . 11p11.2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . probably Tolerated (Intron)
928 11 47347856 G C Pathogenic MYBPC3 . . . . . . . . . . 11 47347856 47347856 G C splicing MYBPC3 NM_000256:exon7:c.821+1C>G . . 11p11.2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .
929 11 47347856 G A Pathogenic/Likely pathogenic MYBPC3 . . . . . . . . . . 11 47347856 47347856 G A splicing MYBPC3 NM_000256:exon7:c.821+1C>T . . 11p11.2 . . . . . . . . . . 1 D . . . . . . . 5.174 25.5 0.991 0.989 D . . . . 0.057 0 5.55 0.871 0.892 0.120 0.995 17.681 Deleterious (FATHMM)
930 11 47348423 G A Pathogenic/Likely pathogenic MYBPC3 . . . . . . . . . . 11 47348423 47348423 G A splicing MYBPC3 NM_000256:exon6:c.772+1C>T . . 11p11.2 . . . . . . . . . . 1 D . . . . . . . 5.582 26.5 0.995 0.963 D . . . . 0.057 0 5.12 0.871 0.852 0.962 0.915 18.565 Deleterious (FATHMM)
931 11 47348424 G A Pathogenic/Likely pathogenic MYBPC3 . . . . . . . . . . 11 47348424 47348424 G A exonic MYBPC3 . stopgain MYBPC3:NM_000256:exon6:c.G772T:p.E258X 11p11.2 . . . . . . . . . . 1 A . . . . . . . 11.730 38 0.997 0.963 D . . . . 0.403 0 5.12 0.871 0.852 0.965 0.908 18.565 Deleterious (FATHMM)
932 11 47348541 G T Pathogenic/Likely pathogenic MYBPC3 . . . . . . . . . . 11 47348541 47348541 G T exonic MYBPC3 . nonsynonymous SNV MYBPC3:NM_000256:exon6:c.G655A:p.V219I 11p11.2 . . 0.452 T 0.012 B 0.201 B . . 1.000 D -0.105 N -0.43 T -0.18 N 0.087 0.927 10.23 0.944 0.887 D -1.053 T 0.138 T 0.581 0 2.93 0.871 0.007 0.996 0.926 8.372 Tolerated
933 11 47348541 G C Pathogenic/Likely pathogenic MYBPC3 . . . . . . . . . . 11 47348541 47348541 G C exonic MYBPC3 . synonymous SNV MYBPC3:NM_000256:exon6:c.G655G:p.V219V 11p11.2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
934 11 47348542 G A Pathogenic MYBPC3 . . . . . . . . . . 11 47348542 47348542 G A splicing MYBPC3 NM_000256:exon6:c.655-1C>T . . 11p11.2 . . . . . . . . . . 1 D . . . . . . . 5.059 25.2 0.994 0.995 D . . . . 0.057 0 4.81 0.871 0.852 0.991 0.920 17.879 Deleterious (FATHMM)
935 11 47349815 C T Pathogenic MYBPC3 . . . . . . . . . . 11 47349815 47349815 C T exonic MYBPC3 . nonsynonymous SNV MYBPC3:NM_000256:exon5:c.C613A:p.Q205K 11p11.2 . . 1.0 T 0.0 B 0.0 B . . 0.728 D -2.725 N -0.41 T 1.88 N 0.171 0.637 8.411 0.447 0.708 D -0.899 T 0.039 T 0.581 0 3.74 -0.045 1.048 0.990 0.999 6.972 Tolerated
936 11 47351294 C G Pathogenic MYBPC3 . . . . . . . . . . 11 47351294 47351294 C G exonic MYBPC3 . synonymous SNV MYBPC3:NM_000256:exon2:c.C237C:p.Y79Y 11p11.2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
937 11 47351507 A G Pathogenic/Likely pathogenic MYBPC3 . . . . . . . . . . 11 47351507 47351507 A G splicing MYBPC3 NM_000256:exon2:c.26-2T>C . . 11p11.2 . . . . . . . . . . 1 D . . . . . . . 3.603 23.2 0.984 0.966 D . . . . 0.074 0 4.27 0.991 1.011 0.947 0.833 8.319 Deleterious (FATHMM)
938 11 61393965 G T Pathogenic TMEM216 . . . . . . . . . . 11 61393965 61393965 G T exonic TMEM216 . nonsynonymous SNV TMEM216:NM_001173990:exon3:c.G218T:p.R73L,TMEM216:NM_001173991:exon3:c.G218T:p.R73L,TMEM216:NM_016499:exon3:c.G35T:p.R12L 11q12.2 . rs201108965 0.004 D 0.989 D 0.865 P 0.000 D 1.000 D 2.845 M -3.4 D -6.18 D 0.976 5.891 27.4 0.997 0.916 D 0.766 D 0.860 D 0.732 0 3.12 0.917 1.048 0.800 0.995 8.601 Deleterious
939 11 62702499 A G Pathogenic BSCL2|HNRNPUL2-BSCL2 . . . . . . . . . . 11 62702499 62702499 A G exonic BSCL2 . nonsynonymous SNV BSCL2:NM_001122955:exon3:c.A455C:p.N152T,BSCL2:NM_001130702:exon3:c.A263C:p.N88T,BSCL2:NM_032667:exon3:c.A263C:p.N88T 11q12.3 . . 0.1 T 1.0 D 1.0 D 0.000 U 1.000 D 2.075 M -2.33 D -3.9 D 0.533 5.044 25.2 0.996 0.953 D -0.455 T 0.338 T 0.732 0 5.64 0.991 1.061 1.000 0.998 13.82 Tolerated
940 11 64753556 G A Pathogenic/Likely pathogenic PYGM . . . . . . . . . . 11 64753556 64753556 G A exonic PYGM . nonsynonymous SNV PYGM:NM_001164716:exon9:c.G1102T:p.V368L,PYGM:NM_005609:exon11:c.G1366T:p.V456L 11q13.1 . . 0.0 D 0.999 D 0.965 D 0.000 D 1 D 4.335 H -3.71 D -2.62 D 0.963 6.508 31 0.998 0.972 D 1.048 D 0.979 D 0.718 0 5.02 0.871 0.919 0.996 0.969 15.876 Deleterious
941 11 64759751 C T Pathogenic PYGM . . . . . . . . . . 11 64759751 64759751 C T exonic PYGM . synonymous SNV PYGM:NM_001164716:exon1:c.C148A:p.R50R,PYGM:NM_005609:exon1:c.C148A:p.R50R 11q13.1 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
942 11 64804738 G T Pathogenic MEN1 . . . . . . . . . . 11 64804738 64804738 G T exonic MEN1 . nonsynonymous SNV MEN1:NM_000244:exon10:c.G1444A:p.E482K,MEN1:NM_130799:exon10:c.G1429A:p.E477K,MEN1:NM_130800:exon10:c.G1444A:p.E482K,MEN1:NM_130801:exon10:c.G1444A:p.E482K,MEN1:NM_130802:exon10:c.G1444A:p.E482K,MEN1:NM_130803:exon10:c.G1444A:p.E482K,MEN1:NM_130804:exon11:c.G1444A:p.E482K 11q13.1 . . 0.295 T 0.997 D 0.989 D 0.000 D 1.000 D 1.01 L -6.3 D -1.19 N 0.665 5.121 25.4 0.998 0.974 D 1.067 D 0.966 D 0.722 0 4.54 0.598 0.935 0.161 0.991 13.223 Deleterious
943 11 64804789 C T Pathogenic MEN1 . . . . . . . . . . 11 64804789 64804789 C T exonic MEN1 . synonymous SNV MEN1:NM_000244:exon10:c.C1393A:p.R465R,MEN1:NM_130799:exon10:c.C1378A:p.R460R,MEN1:NM_130800:exon10:c.C1393A:p.R465R,MEN1:NM_130801:exon10:c.C1393A:p.R465R,MEN1:NM_130802:exon10:c.C1393A:p.R465R,MEN1:NM_130803:exon10:c.C1393A:p.R465R,MEN1:NM_130804:exon11:c.C1393A:p.R465R 11q13.1 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
944 11 64805076 G T Pathogenic MEN1 . . . . . . . . . . 11 64805076 64805076 G T exonic MEN1 . stopgain MEN1:NM_000244:exon9:c.G1323A:p.W441X,MEN1:NM_130799:exon9:c.G1308A:p.W436X,MEN1:NM_130800:exon9:c.G1323A:p.W441X,MEN1:NM_130801:exon9:c.G1323A:p.W441X,MEN1:NM_130802:exon9:c.G1323A:p.W441X,MEN1:NM_130803:exon9:c.G1323A:p.W441X,MEN1:NM_130804:exon10:c.G1323A:p.W441X 11q13.1 . . . . . . . . 0.000 D 1 D . . . . . . . 12.883 40 0.996 0.936 D . . . . 0.732 0 4.01 0.033 0.935 0.791 0.999 14.092 Deleterious (FATHMM)
945 11 64805122 G A Pathogenic/Likely pathogenic MEN1 . . . . . . . . . . 11 64805122 64805122 G A exonic MEN1 . nonsynonymous SNV MEN1:NM_000244:exon9:c.G1277T:p.C426F,MEN1:NM_130799:exon9:c.G1262T:p.C421F,MEN1:NM_130800:exon9:c.G1277T:p.C426F,MEN1:NM_130801:exon9:c.G1277T:p.C426F,MEN1:NM_130802:exon9:c.G1277T:p.C426F,MEN1:NM_130803:exon9:c.G1277T:p.C426F,MEN1:NM_130804:exon10:c.G1277T:p.C426F 11q13.1 . . 0.0 D 1.0 D 1.0 D 0.000 D 1 D 2.08 M -6.49 D -9.32 D 0.961 6.789 32 0.994 0.987 D 1.016 D 0.984 D 0.732 0 4.01 0.871 0.935 0.991 1.000 14.092 Deleterious
946 11 64805132 G A Pathogenic MEN1 . . . . . . . . . . 11 64805132 64805132 G A exonic MEN1 . nonsynonymous SNV MEN1:NM_000244:exon9:c.G1267T:p.D423Y,MEN1:NM_130799:exon9:c.G1252T:p.D418Y,MEN1:NM_130800:exon9:c.G1267T:p.D423Y,MEN1:NM_130801:exon9:c.G1267T:p.D423Y,MEN1:NM_130802:exon9:c.G1267T:p.D423Y,MEN1:NM_130803:exon9:c.G1267T:p.D423Y,MEN1:NM_130804:exon10:c.G1267T:p.D423Y 11q13.1 . . 0.0 D 1.0 D 1.0 D 0.003 N 1 D 2.11 M -6.49 D -7.97 D 0.916 7.201 34 0.995 0.989 D 1.017 D 0.983 D 0.722 0 3.71 0.871 0.935 0.742 1.000 13.454 Deleterious
947 11 64805171 C T Pathogenic MEN1 . . . . . . . . . . 11 64805171 64805171 C T exonic MEN1 . nonsynonymous SNV MEN1:NM_000244:exon9:c.C1228A:p.Q410K,MEN1:NM_130799:exon9:c.C1213A:p.Q405K,MEN1:NM_130800:exon9:c.C1228A:p.Q410K,MEN1:NM_130801:exon9:c.C1228A:p.Q410K,MEN1:NM_130802:exon9:c.C1228A:p.Q410K,MEN1:NM_130803:exon9:c.C1228A:p.Q410K,MEN1:NM_130804:exon10:c.C1228A:p.Q410K 11q13.1 . . 0.525 T 0.149 B 0.154 B 0.000 D 1 D 0.805 L -5.72 D 0.08 N 0.446 1.594 13.82 0.955 0.993 D 0.933 D 0.902 D 0.722 0 3.71 0.917 1.048 0.781 0.998 13.454 Deleterious
948 11 64807010 G A Pathogenic MEN1 . . . . . . . . . . 11 64807010 64807010 G A splicing MEN1 NM_130804:exon7:c.927+1C>T,NM_130803:exon6:c.927+1C>T,NM_130802:exon6:c.927+1C>T,NM_130801:exon6:c.927+1C>T,NM_130800:exon6:c.927+1C>T,NM_130799:exon6:c.912+1C>T,NM_000244:exon6:c.927+1C>T . . 11q13.1 . . . . . . . . . . 1 D . . . . . . . 5.334 25.8 0.995 0.991 D . . . . 0.322 0 4.24 0.598 0.852 0.983 0.967 14.501 Deleterious (FATHMM)
949 11 64807228 G A Pathogenic MEN1 . . . . . . . . . . 11 64807228 64807228 G A intronic MEN1 . . . 11q13.1 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . probably Tolerated (Intron)
950 11 66211206 C T Pathogenic/Likely pathogenic PACS1 . . . . . . . . . . 11 66211206 66211206 C T exonic PACS1 . nonsynonymous SNV PACS1:NM_018026:exon4:c.C607T:p.R203W 11q13.2 . rs398123009 0.0 D 1.0 D 0.987 D 0.000 D 1 D 2.89 M 1.16 T -6.85 D 0.969 7.636 35 0.999 0.907 D -0.524 T 0.250 T 0.706 0 4.79 0.871 0.892 0.995 1.000 12.765 Tolerated
951 11 66526181 T G Pathogenic BBS1|ZDHHC24 . . . . . . . . . . 11 66526181 66526181 T G exonic BBS1 . nonsynonymous SNV BBS1:NM_024649:exon12:c.T1169G:p.M390R 11q13.2 0.0020 rs113624356 0.017 D 0.989 D 0.815 P . . 1 A 2.075 M 0.45 T -4.04 D 0.974 6.084 28.2 0.985 0.987 D 0.728 D 0.730 D 0.635 0 4.47 0.673 1.061 0.995 1.000 12.038 Deleterious
952 11 67612225 C T Pathogenic NDUFV1 . . . . . . . . . . 11 67612225 67612225 C T exonic NDUFV1 . nonsynonymous SNV NDUFV1:NM_001166102:exon9:c.C1241T:p.T414M,NDUFV1:NM_007103:exon9:c.C1268T:p.T423M 11q13.2 . rs121913659 0.0 D 1.0 D 0.927 D 0.000 D 1 A 4.015 H -2.79 D -5.55 D 0.933 6.126 28.4 0.999 0.963 D 1.061 D 0.901 D 0.707 0 5.16 0.871 0.920 0.996 0.554 17.207 Deleterious
953 11 68780662 C T Pathogenic CPT1A . . . . . . . . . . 11 68780662 68780662 C T exonic CPT1A . nonsynonymous SNV CPT1A:NM_001031847:exon12:c.C1436A:p.P479Q,CPT1A:NM_001876:exon12:c.C1436A:p.P479Q 11q13.3 . . 0.0 D 1.0 D 1.0 D 0.000 D 1 D 2.845 M -2.49 D -6.6 D 0.904 5.409 26.0 0.990 0.982 D 0.840 D 0.850 D 0.732 0 5.46 0.917 1.048 0.974 0.006 19.317 Deleterious
954 11 68906109 C T Pathogenic IGHMBP2 . . . . . . . . . . 11 68906109 68906109 C T exonic IGHMBP2 . stopgain IGHMBP2:NM_002180:exon2:c.C127T:p.R43X 11q13.3 0.0002 rs200089714 . . . . . . 0.001 N 1 A . . . . . . . 10.656 36 0.998 0.696 D . . . . 0.745 0 2.44 0.871 0.935 0.998 1.000 8.142 Deleterious (FATHMM)
955 11 68933854 C T Pathogenic/Likely pathogenic IGHMBP2 . . . . . . . . . . 11 68933854 68933854 C T exonic IGHMBP2 . nonsynonymous SNV IGHMBP2:NM_002180:exon10:c.C1478T:p.T493I 11q13.3 . rs780594709 0.0 D 0.999 D 0.987 D 0.000 D 1.000 D 2.17 M -3.01 D -5.4 D 0.94 5.971 27.7 0.999 0.987 D 0.883 D 0.848 D 0.696 0 4.74 0.871 0.932 0.961 0.316 14.674 Deleterious
956 11 68933864 C A Pathogenic IGHMBP2 . . . . . . . . . . 11 68933864 68933864 C A exonic IGHMBP2 . stopgain IGHMBP2:NM_002180:exon10:c.C1488A:p.C496X 11q13.3 0.0002 rs145226920 . . . . . . 0.000 D 1 A . . . . . . . 8.021 35 0.982 0.346 N . . . . 0.696 0 -5.46 -0.514 -1.468 0.992 0.371 12.540 Deleterious (DANN)
957 11 68934466 G A Pathogenic IGHMBP2 . . . . . . . . . . 11 68934466 68934466 G A exonic IGHMBP2 . nonsynonymous SNV IGHMBP2:NM_002180:exon11:c.G1540A:p.E514K 11q13.3 7.7e-05 rs137852665 0.0 D 1.0 D 1.0 D 0.001 N 1 A 4.63 H -4.39 D -3.88 D 0.994 7.142 34 0.999 0.986 D 1.061 D 0.974 D 0.778 0 4.94 0.917 0.998 0.835 0.190 16.943 Deleterious
958 11 71435748 G A Pathogenic DHCR7 . . . . . . . . . . 11 71435748 71435748 G A exonic DHCR7 . nonsynonymous SNV DHCR7:NM_001163817:exon9:c.G1055T:p.R352L,DHCR7:NM_001360:exon9:c.G1055T:p.R352L 11q13.4 . rs121909768 0.001 D 1.0 D 0.997 D 0.000 D 1 D 3.565 H -4.76 D -6.61 D 0.978 7.689 35 0.955 0.945 D 1.083 D 0.973 D 0.707 0 5.08 0.871 0.935 0.990 0.957 15.943 Deleterious
959 11 71435840 G C Pathogenic/Likely pathogenic DHCR7 . . . . . . . . . . 11 71435840 71435840 G C splicing DHCR7 NM_001360:exon9:c.964-1C>G,NM_001163817:exon9:c.964-1C>G . . 11q13.4 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .
960 11 71437934 G A Pathogenic DHCR7 . . . . . . . . . . 11 71437934 71437934 G A exonic DHCR7 . nonsynonymous SNV DHCR7:NM_001163817:exon8:c.G841T:p.V281L,DHCR7:NM_001360:exon8:c.G841T:p.V281L 11q13.4 . . 0.022 D 0.997 D 0.964 D 0.000 D 1 D 2.3 M -4.88 D -2.5 D 0.831 6.854 33 0.997 0.926 D 1.093 D 0.953 D 0.707 0 4.36 0.871 0.935 0.996 0.996 14.416 Deleterious
961 11 71438986 C T Pathogenic DHCR7 . . . . . . . . . . 11 71438986 71438986 C T exonic DHCR7 . nonsynonymous SNV DHCR7:NM_001163817:exon7:c.C724A:p.R242S,DHCR7:NM_001360:exon7:c.C724A:p.R242S 11q13.4 . . 0.0 D 1.0 D 1.0 D 0.000 D 1 D 3.675 H -5.6 D -5.73 D 0.956 7.026 33 0.998 0.986 D 1.024 D 0.985 D 0.707 0 4.44 0.630 0.998 0.759 0.452 15.096 Deleterious
962 11 71441401 G A Pathogenic DHCR7 . . . . . . . . . . 11 71441401 71441401 G A exonic DHCR7 . nonsynonymous SNV DHCR7:NM_001163817:exon6:c.G452T:p.W151L,DHCR7:NM_001360:exon6:c.G452T:p.W151L 11q13.4 . . 0.026 D 0.999 D 0.981 D 0.000 D 1 D 1.055 L -3.92 D -9.22 D 0.799 2.809 21.4 0.939 0.942 D 0.899 D 0.895 D 0.707 0 4.14 0.598 0.935 0.942 0.822 14.271 Deleterious
963 11 71444952 A G Pathogenic/Likely pathogenic DHCR7 . . . . . . . . . . 11 71444952 71444952 A G exonic DHCR7 . nonsynonymous SNV DHCR7:NM_001163817:exon3:c.A1C:p.M1L,DHCR7:NM_001360:exon3:c.A1C:p.M1L 11q13.4 . . 0.0 D 0.456 P 0.134 B 0.005 N 1 D . . -2.45 D -0.6 N 0.899 3.231 22.8 0.948 0.941 D 0.706 D 0.813 D 0.707 0 4.06 0.673 1.061 0.117 0.863 9.969 Deleterious
964 11 77156909 G A Pathogenic MYO7A . . . . . . . . . . 11 77156909 77156909 G A exonic MYO7A . nonsynonymous SNV MYO7A:NM_000260:exon7:c.G640A:p.G214R,MYO7A:NM_001127179:exon7:c.G640A:p.G214R,MYO7A:NM_001127180:exon7:c.G640A:p.G214R 11q13.5 . rs111033283 0.0 D 1.0 D 1.0 D 0.000 D 1 D 4.27 H -3.19 D -6.92 D 0.994 7.282 34 0.999 0.987 D 1.105 D 0.942 D 0.554 0 5.2 0.913 0.951 0.994 0.995 18.751 Deleterious
965 11 77184688 G T Pathogenic/Likely pathogenic MYO7A . . . . . . . . . . 11 77184688 77184688 G T exonic MYO7A . nonsynonymous SNV MYO7A:NM_000260:exon27:c.G3476T:p.G1159V,MYO7A:NM_001127179:exon27:c.G3476T:p.G1159V,MYO7A:NM_001127180:exon27:c.G3476T:p.G1159V 11q13.5 . rs199897298 0.001 D 1.0 D 1.0 D 0.000 D 1 D 3.405 M -2.72 D -8.15 D 0.995 6.448 29.8 0.998 0.989 D 1.054 D 0.909 D 0.615 0 5.02 0.917 0.943 0.996 0.997 18.341 Deleterious
966 11 77190108 G A Pathogenic MYO7A . . . . . . . . . . 11 77190108 77190108 G A exonic MYO7A . nonsynonymous SNV MYO7A:NM_000260:exon29:c.G3719A:p.R1240Q,MYO7A:NM_001127180:exon29:c.G3719A:p.R1240Q 11q13.5 0.0002 rs111033178 0.0 D 1.0 D 1.0 D 0.000 D 1 D 4.48 H -4.81 D -3.72 D 0.941 7.370 34 0.999 0.996 D 1.034 D 0.980 D 0.646 0 4.44 0.917 0.988 0.998 0.979 15.307 Deleterious
967 11 77207370 G T Pathogenic/Likely pathogenic MYO7A . . . . . . . . . . 11 77207370 77207370 G T exonic MYO7A . stopgain MYO7A:NM_000260:exon42:c.G5824T:p.G1942X,MYO7A:NM_001127180:exon42:c.G5710T:p.G1904X 11q13.5 . rs111033192 . . . . . . 0.000 D 1 A . . . . . . . 15.835 53 0.993 0.989 D . . . . 0.638 0 5.01 0.913 1.042 0.998 0.987 18.352 Deleterious (FATHMM)
968 11 77208472 C T Pathogenic/Likely pathogenic MYO7A . . . . . . . . . . 11 77208472 77208472 C T exonic MYO7A . stopgain MYO7A:NM_000260:exon43:c.C5899T:p.R1967X,MYO7A:NM_001127180:exon43:c.C5785T:p.R1929X 11q13.5 8.1e-05 rs376764423 . . . . . . 0.000 D 1 A . . . . . . . 14.558 46 0.998 0.882 D . . . . 0.554 0 4.29 0.871 0.892 0.998 0.992 10.186 Deleterious (FATHMM)
969 11 89191205 G T Pathogenic TYR . . . . . . . . . . 11 89191205 89191205 G T exonic TYR . nonsynonymous SNV TYR:NM_000372:exon2:c.G823T:p.V275F 11q14.3 . rs104894314 0.002 D 0.782 P 0.42 B 0.098 N 0.000 A 1.795 L -4.36 D -2.79 D 0.777 3.131 22.6 0.985 0.056 N 0.435 D 0.831 D 0.487 0 -8.22 -0.655 -0.584 0.055 0.459 17.793 Deleterious
970 11 89227816 T A Pathogenic/Likely pathogenic, not provided TYR . . . . . . . . . . 11 89227816 89227816 T A intronic TYR . . . 11q14.3 0.0008 rs61754381 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . probably Tolerated (Intron)
971 11 89227904 C A Pathogenic TYR . . . . . . . . . . 11 89227904 89227904 C A exonic TYR . nonsynonymous SNV TYR:NM_000372:exon3:c.C1118A:p.T373K 11q14.3 0.0005 rs61754388 0.001 D 0.001 B 0.004 B 0.000 N 0.993 A 2.635 M -4.83 D -3.79 D 0.849 4.959 25.0 0.975 0.974 D 1.021 D 0.915 D 0.487 0 4.45 0.871 0.852 1.000 1.000 15.213 Deleterious
972 11 89284792 C T Pathogenic TYR . . . . . . . . . . 11 89284792 89284792 C T exonic TYR . stopgain TYR:NM_000372:exon4:c.C1204T:p.R402X 11q14.3 . rs62645917 . . . . . . 0.000 D 1 A . . . . . . . 15.454 51 0.997 0.868 D . . . . 0.487 0 4.68 0.871 0.932 0.997 0.999 11.145 Deleterious (FATHMM)
973 11 94447276 C T Pathogenic MRE11A . . . . . . . . . . 11 94447276 94447276 C T exonic MRE11A . synonymous SNV MRE11A:NM_005590:exon15:c.C1726A:p.R576R,MRE11A:NM_005591:exon15:c.C1726A:p.R576R 11q21 . rs774277300 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
974 11 94467821 C T Pathogenic MRE11A . . . . . . . . . . 11 94467821 94467821 C T exonic MRE11A . synonymous SNV MRE11A:NM_005590:exon10:c.C1090A:p.R364R,MRE11A:NM_005591:exon10:c.C1090A:p.R364R 11q21 . rs371077728 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
975 11 94471572 T A Pathogenic MRE11A . . . . . . . . . . 11 94471572 94471572 T A splicing MRE11A NM_005590:exon8:c.845+2A>T,NM_005591:exon8:c.845+2A>T . . 11q21 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .
976 11 108138934 A G Pathogenic ACAT1 . . . . . . . . . . 11 108138934 108138934 A G exonic ACAT1 . nonsynonymous SNV ACAT1:NM_000019:exon6:c.A472G:p.N158D 11q22.3 7.7e-05 rs148639841 0.005 D 0.931 P 0.716 P 0.000 D 1 D 2.92 M -2.67 D -4.4 D 0.435 6.031 28.0 0.997 0.969 D 0.005 D 0.463 T 0.706 0 5.74 1.062 1.176 1.000 0.998 16.043 Tolerated
977 11 108227626 T C Pathogenic/Likely pathogenic ATM . . . . . . . . . . 11 108227626 108227626 T C exonic ATM . nonsynonymous SNV ATM:NM_000051:exon2:c.T2C:p.M1T 11q22.3 . rs786203606 0.0 D 0.956 P 0.549 P 0.000 D 1 D . . 4.45 T -1.87 N 0.975 4.960 25.0 0.991 0.978 D -0.800 T 0.153 T 0.732 0 5.08 0.991 1.061 0.990 1.000 15.148 Tolerated
978 11 108227627 G A Pathogenic/Likely pathogenic ATM . . . . . . . . . . 11 108227627 108227627 G A exonic ATM . nonsynonymous SNV ATM:NM_000051:exon2:c.G3A:p.M1I 11q22.3 . rs781404312 0.0 D 0.872 P 0.396 B 0.000 D 1 D . . 4.53 T -1.54 N 0.974 5.865 27.3 0.997 0.965 D -0.921 T 0.115 T 0.732 0 5.08 0.917 1.048 0.994 1.000 18.841 Tolerated
979 11 108227806 C T Pathogenic/Likely pathogenic ATM . . . . . . . . . . 11 108227806 108227806 C T exonic ATM . stopgain ATM:NM_000051:exon3:c.C103T:p.R35X 11q22.3 . rs55861249 . . . . . . 0.000 D 1 A . . . . . . . 11.377 37 0.998 0.932 D . . . . 0.732 0 5.29 0.871 0.060 0.995 0.996 14.161 Deleterious (FATHMM)
980 11 108227873 G A Pathogenic ATM . . . . . . . . . . 11 108227873 108227873 G A exonic ATM . stopgain ATM:NM_000051:exon3:c.G170A:p.W57X 11q22.3 . rs587779818 . . . . . . 0.000 D 1 A . . . . . . . 11.574 37 0.988 0.993 D . . . . 0.706 0 5.14 0.917 1.048 1.000 1.000 18.966 Deleterious (FATHMM)
981 11 108235839 G A Pathogenic/Likely pathogenic ATM . . . . . . . . . . 11 108235839 108235839 G A intronic ATM . . . 11q22.3 . rs796051858 . . . . . . . . 1 D . . . . . . . 1.136 11.41 0.738 0.881 D . . . . 0.099 0 4.9 0.917 0.998 0.984 0.970 14.298 Deleterious (FATHMM)
982 11 108244867 C T Pathogenic ATM . . . . . . . . . . 11 108244867 108244867 C T exonic ATM . stopgain ATM:NM_000051:exon7:c.C742T:p.R248X 11q22.3 . rs730881336 . . . . . . 0.000 D 1 A . . . . . . . 11.010 37 0.997 0.948 D . . . . 0.732 0 4.6 0.871 0.935 0.955 0.991 15.848 Deleterious (FATHMM)
983 11 108244873 C T Pathogenic ATM . . . . . . . . . . 11 108244873 108244873 C T exonic ATM . stopgain ATM:NM_000051:exon7:c.C748T:p.R250X 11q22.3 . rs772821016 . . . . . . 0.103 N 1 A . . . . . . . 9.892 36 0.997 0.889 D . . . . 0.732 0 3.43 0.871 0.935 0.933 0.938 10.650 Deleterious (FATHMM)
984 11 108244927 C T Pathogenic/Likely pathogenic ATM . . . . . . . . . . 11 108244927 108244927 C T exonic ATM . stopgain ATM:NM_000051:exon7:c.C802T:p.Q268X 11q22.3 . rs557012154 . . . . . . 0.002 N 1 A . . . . . . . 10.739 36 0.998 0.911 D . . . . 0.732 0 5.33 0.871 0.935 1.000 1.000 14.249 Deleterious (FATHMM)
985 11 108244954 G T Pathogenic/Likely pathogenic ATM . . . . . . . . . . 11 108244954 108244954 G T exonic ATM . stopgain ATM:NM_000051:exon7:c.G829T:p.E277X 11q22.3 . . . . . . . . 0.000 D 1 A . . . . . . . 12.293 39 0.997 0.993 D . . . . 0.707 0 5.33 0.917 1.048 0.999 1.000 19.381 Deleterious (FATHMM)
986 11 108245027 G A Pathogenic ATM . . . . . . . . . . 11 108245027 108245027 G A splicing ATM NM_000051:exon7:c.901+1G>A . . 11q22.3 . rs748840480 . . . . . . . . 1 D . . . . . . . 4.762 24.7 0.991 0.990 D . . . . 0.295 0 5.15 0.917 0.953 0.970 0.974 12.372 Deleterious (FATHMM)
987 11 108248977 C G Pathogenic ATM . . . . . . . . . . 11 108248977 108248977 C G exonic ATM . stopgain ATM:NM_000051:exon9:c.C1110G:p.Y370X 11q22.3 . rs376170600 . . . . . . 0.012 N 1 A . . . . . . . 3.133 22.6 0.906 0.155 N . . . . 0.563 0 -7.76 -1.741 -1.295 0.724 0.027 20.640
988 11 108250804 C T Pathogenic/Likely pathogenic ATM . . . . . . . . . . 11 108250804 108250804 C T exonic ATM . stopgain ATM:NM_000051:exon10:c.C1339T:p.R447X 11q22.3 . rs587779815 . . . . . . 0.000 D 1 A . . . . . . . 12.268 39 0.998 0.963 D . . . . 0.732 0 6.08 0.871 0.892 0.981 0.996 15.396 Deleterious (FATHMM)
989 11 108251073 G T Pathogenic ATM . . . . . . . . . . 11 108251073 108251073 G T splicing ATM NM_000051:exon10:c.1607+1G>T . . 11q22.3 . rs772926890 . . . . . . . . 1 D . . . . . . . 5.235 25.6 0.994 0.998 D . . . . 0.295 0 6.17 0.917 1.048 0.855 0.949 20.879 Deleterious (FATHMM)
990 11 108252914 T G Pathogenic ATM . . . . . . . . . . 11 108252914 108252914 T G splicing ATM NM_000051:exon12:c.1898+2T>G . . 11q22.3 . rs587782124 . . . . . . . . 1 D . . . . . . . 5.012 25.1 0.985 0.994 D . . . . 0.106 0 5.75 0.991 1.011 0.997 0.998 16.066 Deleterious (FATHMM)
991 11 108253938 C T Pathogenic/Likely pathogenic ATM . . . . . . . . . . 11 108253938 108253938 C T exonic ATM . stopgain ATM:NM_000051:exon13:c.C2023T:p.Q675X 11q22.3 . rs777849257 . . . . . . 0.573 N 1 A . . . . . . . 6.901 33 0.994 0.075 N . . . . 0.707 0 5.19 0.871 0.935 0.008 0.005 10.359 Deleterious (DANN)
992 11 108254013 C T Pathogenic/Likely pathogenic ATM . . . . . . . . . . 11 108254013 108254013 C T exonic ATM . stopgain ATM:NM_000051:exon13:c.C2098T:p.Q700X 11q22.3 . rs786202743 . . . . . . 0.031 N 1 A . . . . . . . 10.265 36 0.996 0.820 D . . . . 0.707 0 5.19 0.871 0.935 0.996 0.986 12.371 Deleterious (FATHMM)
993 11 108257471 T G Pathogenic/Likely pathogenic ATM . . . . . . . . . . 11 108257471 108257471 T G intronic ATM . . . 11q22.3 . rs730881346 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . probably Tolerated (Intron)
994 11 108259022 C T Pathogenic ATM . . . . . . . . . . 11 108259022 108259022 C T exonic ATM . stopgain ATM:NM_000051:exon16:c.C2413T:p.R805X 11q22.3 . rs780619951 . . . . . . 0.004 N 1 A . . . . . . . 9.080 35 0.996 0.424 N . . . . 0.732 0 2.87 -0.006 0.068 0.988 0.857 15.183 Deleterious (DANN)
995 11 108259035 C A Pathogenic ATM . . . . . . . . . . 11 108259035 108259035 C A exonic ATM . stopgain ATM:NM_000051:exon16:c.C2426A:p.S809X 11q22.3 . rs730881348 . . . . . . 0.001 D 1 A . . . . . . . 11.603 37 0.995 0.975 D . . . . 0.732 0 5.8 0.871 0.935 0.998 0.997 20.071 Deleterious (FATHMM)
996 11 108267344 T C Pathogenic/Likely pathogenic ATM . . . . . . . . . . 11 108267344 108267344 T C splicing ATM NM_000051:exon17:c.2638+2T>C . . 11q22.3 . rs587779826 . . . . . . . . 1 D . . . . . . . 3.792 23.4 0.959 0.946 D . . . . 0.106 0 4.89 0.673 1.011 0.414 0.753 13.628 Deleterious (FATHMM)
997 11 108271147 G C Pathogenic/Likely pathogenic ATM . . . . . . . . . . 11 108271147 108271147 G C splicing ATM NM_000051:exon19:c.2921+1G>C . . 11q22.3 . rs587781558 . . . . . . . . 1 D . . . . . . . 5.471 26.2 0.994 0.992 D . . . . 0.322 0 5.73 0.917 1.048 1.000 1.000 20.270 Deleterious (FATHMM)
998 11 108271147 G T Pathogenic/Likely pathogenic ATM . . . . . . . . . . 11 108271147 108271147 G T splicing ATM NM_000051:exon19:c.2921+1G>T . . 11q22.3 . rs587781558 . . . . . . . . 1 D . . . . . . . 5.571 26.4 0.994 0.991 D . . . . 0.322 0 5.73 0.917 1.048 1.000 1.000 20.270 Deleterious (FATHMM)
999 11 108271147 G A Pathogenic/Likely pathogenic ATM . . . . . . . . . . 11 108271147 108271147 G A splicing ATM NM_000051:exon19:c.2921+1G>A . . 11q22.3 . rs587781558 . . . . . . . . 1 D . . . . . . . 5.815 27.2 0.994 0.990 D . . . . 0.322 0 5.73 0.917 1.048 1.000 1.000 20.270 Deleterious (FATHMM)
1000 11 108271378 C T Pathogenic ATM . . . . . . . . . . 11 108271378 108271378 C T exonic ATM . stopgain ATM:NM_000051:exon20:c.C3049T:p.Q1017X 11q22.3 . rs730881388 . . . . . . 0.113 N 1 A . . . . . . . 11.504 37 0.997 0.911 D . . . . 0.707 0 5.8 0.871 0.070 0.999 0.956 14.232 Deleterious (FATHMM)
1001 11 108272720 A G Pathogenic ATM . . . . . . . . . . 11 108272720 108272720 A G splicing ATM NM_000051:exon22:c.3154-2A>G . . 11q22.3 . rs730881357 . . . . . . . . 1 D . . . . . . . 3.901 23.5 0.988 0.985 D . . . . 0.156 0 5.63 1.062 1.199 0.824 0.655 16.138 Deleterious (FATHMM)
1002 11 108279510 G T Pathogenic ATM . . . . . . . . . . 11 108279510 108279510 G T exonic ATM . stopgain ATM:NM_000051:exon23:c.G3304T:p.G1102X 11q22.3 . rs147557621 . . . . . . 0.664 N 1 A . . . . . . . 7.936 35 0.901 0.193 N . . . . 0.732 0 -0.183 0.913 -0.319 0.026 0.372 5.345
1003 11 108279578 C G Pathogenic/Likely pathogenic ATM . . . . . . . . . . 11 108279578 108279578 C G exonic ATM . stopgain ATM:NM_000051:exon23:c.C3372G:p.Y1124X 11q22.3 . rs587779833 . . . . . . 0.000 D 1 A . . . . . . . 9.958 36 0.996 0.872 D . . . . 0.732 0 2.43 0.031 0.890 0.959 0.885 12.545 Deleterious (FATHMM)
1004 11 108281168 G A Pathogenic ATM . . . . . . . . . . 11 108281168 108281168 G A exonic ATM . synonymous SNV ATM:NM_000051:exon24:c.G3576A:p.K1192K 11q22.3 . rs587776551 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
1005 11 108282796 G A Pathogenic ATM . . . . . . . . . . 11 108282796 108282796 G A exonic ATM . stopgain ATM:NM_000051:exon25:c.G3663A:p.W1221X 11q22.3 . rs864622490 . . . . . . 0.000 D 1 A . . . . . . . 13.057 41 0.994 0.987 D . . . . 0.732 0 5.38 0.917 0.998 0.997 1.000 19.123 Deleterious (FATHMM)
1006 11 108284316 G A Pathogenic ATM . . . . . . . . . . 11 108284316 108284316 G A exonic ATM . stopgain ATM:NM_000051:exon26:c.G3836A:p.W1279X 11q22.3 . rs587779836 . . . . . . 0.000 D 1 A . . . . . . . 12.805 40 0.993 0.992 D . . . . 0.707 0 5.68 0.917 1.048 0.979 0.989 19.791 Deleterious (FATHMM)
1007 11 108284474 G A Pathogenic ATM . . . . . . . . . . 11 108284474 108284474 G A splicing ATM NM_000051:exon26:c.3993+1G>A . . 11q22.3 . rs200196781 . . . . . . . . 1 D . . . . . . . 5.471 26.2 0.991 0.998 D . . . . 0.295 0 5.43 0.917 1.048 0.993 0.949 19.230 Deleterious (FATHMM)
1008 11 108287598 A G Pathogenic/Likely pathogenic ATM . . . . . . . . . . 11 108287598 108287598 A G splicing ATM NM_000051:exon27:c.3994-2A>G . . 11q22.3 . rs587782276 . . . . . . . . 1 D . . . . . . . 5.124 25.4 0.986 0.974 D . . . . 0.322 0 6.06 1.062 1.199 0.998 0.989 12.247 Deleterious (FATHMM)
1009 11 108289065 A T Pathogenic ATM . . . . . . . . . . 11 108289065 108289065 A T exonic ATM . stopgain ATM:NM_000051:exon28:c.A4198T:p.K1400X 11q22.3 . rs587781950 . . . . . . 0.000 D 1 A . . . . . . . 12.245 39 0.994 0.940 D . . . . 0.707 0 5.36 1.062 1.194 0.999 0.989 11.355 Deleterious (FATHMM)
1010 11 108293436 C T Pathogenic/Likely pathogenic ATM . . . . . . . . . . 11 108293436 108293436 C T exonic ATM . stopgain ATM:NM_000051:exon31:c.C4735T:p.Q1579X 11q22.3 . . . . . . . . 0.001 D 1 A . . . . . . . 12.698 40 0.998 0.947 D . . . . 0.732 0 5.31 0.871 0.935 0.998 1.000 19.335 Deleterious (FATHMM)
1011 11 108293479 T C Pathogenic ATM . . . . . . . . . . 11 108293479 108293479 T C splicing ATM NM_000051:exon31:c.4776+2T>C . . 11q22.3 . rs587781927 . . . . . . . . 1 D . . . . . . . 4.962 25.0 0.989 0.982 D . . . . 0.156 0 5.31 0.991 1.061 0.994 0.999 15.553 Deleterious (FATHMM)
1012 11 108301658 C T Pathogenic/Likely pathogenic ATM . . . . . . . . . . 11 108301658 108301658 C T exonic ATM . stopgain ATM:NM_000051:exon35:c.C5188T:p.R1730X 11q22.3 . rs764389018 . . . . . . 0.000 D 1 A . . . . . . . 13.317 41 0.997 0.851 D . . . . 0.745 0 3.95 0.871 0.892 0.998 0.998 12.809 Deleterious (FATHMM)
1013 11 108304822 C T Pathogenic/Likely pathogenic ATM . . . . . . . . . . 11 108304822 108304822 C T exonic ATM . stopgain ATM:NM_000051:exon37:c.C5644T:p.R1882X 11q22.3 . rs786204433 . . . . . . 0.000 D 1 A . . . . . . . 11.835 38 0.997 0.913 D . . . . 0.732 0 3.59 0.871 0.892 0.988 0.843 13.771 Deleterious (FATHMM)
1014 11 108310287 A T Pathogenic/Likely pathogenic ATM|C11orf65 . . . . . . . . . . 11 108310287 108310287 A T exonic ATM . stopgain ATM:NM_000051:exon39:c.A5890T:p.K1964X 11q22.3 . rs201963507 . . . . . . 0.000 D 1 D . . . . . . . 14.240 45 0.995 0.989 D . . . . 0.732 0 4.57 1.062 1.088 0.998 0.997 12.690 Deleterious (FATHMM)
1015 11 108310305 C T Pathogenic ATM|C11orf65 . . . . . . . . . . 11 108310305 108310305 C T exonic ATM . stopgain ATM:NM_000051:exon39:c.C5908T:p.Q1970X 11q22.3 . rs587781722 . . . . . . 0.000 D 1 D . . . . . . . 13.136 41 0.996 0.960 D . . . . 0.732 0 4.68 0.791 0.768 0.976 0.986 14.995 Deleterious (FATHMM)
1016 11 108312424 G T Pathogenic ATM|C11orf65 . . . . . . . . . . 11 108312424 108312424 G T exonic ATM . stopgain ATM:NM_000051:exon40:c.G5932T:p.E1978X 11q22.3 . rs587779852 . . . . . . 0.000 D 1 D . . . . . . . 15.852 53 0.998 0.991 D . . . . 0.732 0 5.33 0.917 0.953 0.998 0.998 19.378 Deleterious (FATHMM)
1017 11 108315911 G A Pathogenic/Likely pathogenic ATM|C11orf65 . . . . . . . . . . 11 108315911 108315911 G A exonic ATM . nonsynonymous SNV ATM:NM_000051:exon41:c.G6095A:p.R2032K 11q22.3 7.7e-05 rs139770721 0.018 D 0.994 D 0.856 P 0.000 D 1 D 2.28 M 4.83 T -2.61 D 0.863 5.473 26.2 0.996 0.993 D -1.120 T 0.022 T 0.707 0 5.33 0.917 0.998 0.845 0.988 17.196 Tolerated
1018 11 108316015 C T Pathogenic/Likely pathogenic ATM|C11orf65 . . . . . . . . . . 11 108316015 108316015 C T exonic ATM . stopgain ATM:NM_000051:exon42:c.C6100T:p.R2034X 11q22.3 . rs532480170 . . . . . . 0.000 D 1 D . . . . . . . 10.638 36 0.992 0.824 D . . . . 0.707 0 -1.25 -0.782 0.807 0.183 0.951 15.630 Deleterious (FATHMM)
1019 11 108321421 G A Pathogenic/Likely pathogenic ATM|C11orf65 . . . . . . . . . . 11 108321421 108321421 G A splicing ATM NM_000051:exon45:c.6572+1G>A . . 11q22.3 . rs587779856 . . . . . . . . 1 D . . . . . . . 5.942 27.6 0.995 0.992 D . . . . 0.295 0 5.79 0.917 0.998 0.844 0.957 20.090 Deleterious (FATHMM)
1020 11 108325416 C T Pathogenic/Likely pathogenic ATM|C11orf65 . . . . . . . . . . 11 108325416 108325416 C T exonic ATM . nonsynonymous SNV ATM:NM_000051:exon46:c.C6679T:p.R2227C 11q22.3 . rs564652222 0.0 D 1.0 D 0.999 D 0.000 D 1 D 2.32 M -2.41 D -7.68 D 0.992 8.262 35 0.999 0.980 D 0.803 D 0.819 D 0.732 0 5.03 0.871 0.935 0.982 0.992 18.733 Deleterious
1021 11 108329027 G T Pathogenic/Likely pathogenic ATM|C11orf65 . . . . . . . . . . 11 108329027 108329027 G T exonic ATM . stopgain ATM:NM_000051:exon49:c.G7096T:p.E2366X 11q22.3 . rs587781672 . . . . . . 0.000 D 1 D . . . . . . . 13.392 42 0.996 0.983 D . . . . 0.732 0 2.74 0.034 -0.197 0.995 0.989 8.345 Deleterious (FATHMM)
1022 11 108329202 T G Pathogenic, risk factor ATM|C11orf65 . . . . . . . . . . 11 108329202 108329202 T G exonic ATM . nonsynonymous SNV ATM:NM_000051:exon49:c.T7271G:p.V2424G 11q22.3 7.7e-05 rs28904921 0.001 D 1.0 D 0.996 D 0.000 D 1 A 2.19 M -0.81 T -4.76 D 0.961 6.174 28.6 0.997 0.988 D 0.211 D 0.568 D 0.732 0 5.54 0.991 1.061 0.998 1.000 15.684 Deleterious
1023 11 108330233 C T Pathogenic/Likely pathogenic ATM|C11orf65 . . . . . . . . . . 11 108330233 108330233 C T exonic ATM . stopgain ATM:NM_000051:exon50:c.C7327T:p.R2443X 11q22.3 . rs121434220 . . . . . . 0.000 D 1 A . . . . . . . 13.905 43 0.992 0.948 D . . . . 0.707 0 -0.194 -0.782 0.852 0.993 0.997 14.731 Deleterious (FATHMM)
1024 11 108330362 C T Pathogenic ATM|C11orf65 . . . . . . . . . . 11 108330362 108330362 C T exonic ATM . stopgain ATM:NM_000051:exon50:c.C7456T:p.R2486X 11q22.3 . rs587779865 . . . . . . 0.000 D 1 D . . . . . . . 14.283 45 0.997 0.935 D . . . . 0.719 0 4.7 0.871 0.852 0.997 0.796 16.976 Deleterious (FATHMM)
1025 11 108331877 A C Pathogenic ATM|C11orf65 . . . . . . . . . . 11 108331877 108331877 A C splicing ATM NM_000051:exon52:c.7630-2A>C . . 11q22.3 . rs587779866 . . . . . . . . 1 D . . . . . . . 4.377 24.1 0.992 0.982 D . . . . 0.295 0 5.32 1.062 1.076 0.941 0.971 15.296 Deleterious (FATHMM)
1026 11 108332037 G A Pathogenic ATM|C11orf65 . . . . . . . . . . 11 108332037 108332037 G A exonic ATM . synonymous SNV ATM:NM_000051:exon52:c.G7788A:p.E2596E 11q22.3 . rs587780639 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
1027 11 108332886 G A Pathogenic/Likely pathogenic ATM|C11orf65 . . . . . . . . . . 11 108332886 108332886 G A exonic ATM . stopgain ATM:NM_000051:exon53:c.G7913A:p.W2638X 11q22.3 7.7e-05 rs377349459 . . . . . . 0.000 D 1 D . . . . . . . 14.874 48 0.985 0.947 D . . . . 0.732 0 5.09 0.917 0.953 0.996 0.998 18.864 Deleterious (FATHMM)
1028 11 108335104 G T Pathogenic/Likely pathogenic ATM|C11orf65 . . . . . . . . . . 11 108335104 108335104 G T exonic ATM . nonsynonymous SNV ATM:NM_000051:exon55:c.G8146T:p.V2716F 11q22.3 . rs730881385 0.0 D 1.0 D 1.0 D 0.000 D 1 D 1.295 L -2.38 D -3.85 D 0.838 6.256 28.9 0.996 0.987 D 0.453 D 0.753 D 0.732 0 5.67 0.917 1.048 0.986 0.967 19.777 Deleterious
1029 11 108335105 T C Pathogenic/Likely pathogenic ATM|C11orf65 . . . . . . . . . . 11 108335105 108335105 T C exonic ATM . nonsynonymous SNV ATM:NM_000051:exon55:c.T8147C:p.V2716A 11q22.3 . rs587782652 0.0 D 0.994 D 0.993 D 0.000 D 1 D 1.925 M -2.35 D -3.39 D 0.951 5.487 26.2 0.999 0.984 D 0.717 D 0.789 D 0.732 0 5.67 0.991 1.061 0.978 0.958 15.919 Deleterious
1030 11 108335959 A T Pathogenic/Likely pathogenic ATM|C11orf65 . . . . . . . . . . 11 108335959 108335959 A T exonic ATM . stopgain ATM:NM_000051:exon56:c.A8266T:p.K2756X 11q22.3 7.7e-05 rs371638537 . . . . . . 0.000 D 1 D . . . . . . . 16.102 54 0.995 0.990 D . . . . 0.707 0 5.56 1.062 1.199 0.930 0.906 15.704 Deleterious (FATHMM)
1031 11 108343246 G A Pathogenic/Likely pathogenic ATM|C11orf65 . . . . . . . . . . 11 108343246 108343246 G A exonic ATM . nonsynonymous SNV ATM:NM_000051:exon57:c.G8293A:p.G2765S 11q22.3 . rs748634900 0.0 D 1.0 D 1.0 D 0.000 D 1 D 3.98 H -1.52 D -5.17 D 0.983 6.903 33 0.998 0.992 D 0.858 D 0.807 D 0.732 0 5.56 0.917 1.048 0.997 1.000 19.879 Deleterious
1032 11 108343260 G A Pathogenic/Likely pathogenic ATM|C11orf65 . . . . . . . . . . 11 108343260 108343260 G A exonic ATM . stopgain ATM:NM_000051:exon57:c.G8307A:p.W2769X 11q22.3 . rs778269655 . . . . . . 0.000 D 1 D . . . . . . . 15.492 51 0.995 0.992 D . . . . 0.732 0 5.56 0.917 1.048 0.998 1.000 19.879 Deleterious (FATHMM)
1033 11 108345818 C T Pathogenic/Likely pathogenic ATM|C11orf65 . . . . . . . . . . 11 108345818 108345818 C T exonic ATM . nonsynonymous SNV ATM:NM_000051:exon58:c.C8494T:p.R2832C 11q22.3 . rs587779872 0.001 D 1.0 D 0.994 D 0.000 D 1 D 3.025 M -1.0 T -4.76 D 0.978 7.960 35 0.999 0.907 D 0.458 D 0.656 D 0.732 0 5.45 0.871 0.848 1.000 1.000 19.287 Deleterious
1034 11 108353881 G C Pathogenic ATM|C11orf65 . . . . . . . . . . 11 108353881 108353881 G C splicing ATM NM_000051:exon60:c.8786+1G>C . . 11q22.3 . rs17174393 . . . . . . . . 1 D . . . . . . . 4.975 25.1 0.994 0.996 D . . . . 0.295 0 5.42 0.917 0.953 0.971 0.907 19.213 Deleterious (FATHMM)
1035 11 108353881 G A Pathogenic/Likely pathogenic ATM|C11orf65 . . . . . . . . . . 11 108353881 108353881 G A splicing ATM NM_000051:exon60:c.8786+1G>A . . 11q22.3 . rs17174393 . . . . . . . . 1 D . . . . . . . 5.509 26.3 0.994 0.995 D . . . . 0.295 0 5.42 0.917 0.953 0.971 0.907 19.213 Deleterious (FATHMM)
1036 11 108365208 C T Pathogenic/Likely pathogenic ATM|C11orf65 . . . . . . . . . . 11 108365208 108365208 C T exonic ATM . stopgain ATM:NM_000051:exon62:c.C8977T:p.R2993X 11q22.3 . rs770641163 . . . . . . 0.012 N 1 D . . . . . . . 14.610 47 0.989 0.969 D . . . . 0.706 0 3.44 -0.058 -0.489 0.866 0.610 9.694 Deleterious (FATHMM)
1037 11 108365356 G T Pathogenic/Likely pathogenic ATM|C11orf65 . . . . . . . . . . 11 108365356 108365356 G T exonic ATM . stopgain ATM:NM_000051:exon63:c.G9019T:p.E3007X 11q22.3 . . . . . . . . 0.000 D 1 D . . . . . . . 15.749 52 0.996 0.994 D . . . . 0.706 0 5.22 0.917 0.953 0.993 0.943 19.035 Deleterious (FATHMM)
1038 11 108365359 C T Pathogenic/Likely pathogenic ATM|C11orf65 . . . . . . . . . . 11 108365359 108365359 C T exonic ATM . nonsynonymous SNV ATM:NM_000051:exon63:c.C9022T:p.R3008C 11q22.3 . rs587782292 0.001 D 1.0 D 0.988 D 0.000 D 1 D 2.545 M 4.35 T -6.32 D 0.963 7.496 34 0.999 0.979 D -1.211 T 0.035 T 0.706 0 5.22 0.871 0.852 0.981 0.899 19.035 Tolerated
1039 11 112088939 C T Pathogenic SDHD . . . . . . . . . . 11 112088939 112088939 C T exonic SDHD . nonsynonymous SNV SDHD:NM_001276504:exon2:c.C125T:p.P42L,SDHD:NM_001276506:exon3:c.C242T:p.P81L,SDHD:NM_003002:exon3:c.C242T:p.P81L 11q23.1 . rs80338844 0.045 D 0.997 D 0.751 P 0.000 D 1 A 3.41 M -4.32 D -8.54 D 0.968 7.324 34 0.996 0.976 D 1.096 D 0.964 D 0.707 0 5.04 -0.011 -0.014 0.633 0.838 18.375 Deleterious
1040 11 112094831 A G Pathogenic SDHD . . . . . . . . . . 11 112094831 112094831 A G exonic SDHD . nonsynonymous SNV SDHD:NM_001276503:exon3:c.A196G:p.M66V,SDHD:NM_001276504:exon3:c.A224G:p.Y75C,SDHD:NM_003002:exon4:c.A341G:p.Y114C 11q23.1 . rs104894304 0.022 D 0.964 D 0.844 P 0.000 D 1 A 2.51 M -6.69 D -7.31 D 0.997 5.021 25.2 0.951 0.984 D 1.001 D 0.987 D 0.707 0 4.85 1.062 1.194 0.970 0.996 14.585 Deleterious
1041 11 119026979 C T Pathogenic/Likely pathogenic SLC37A4 . . . . . . . . . . 11 119026979 119026979 C T exonic SLC37A4 . nonsynonymous SNV SLC37A4:NM_001164280:exon5:c.C742A:p.Q248K,SLC37A4:NM_001467:exon6:c.C742A:p.Q248K,SLC37A4:NM_001164277:exon7:c.C742A:p.Q248K,SLC37A4:NM_001164278:exon7:c.C742A:p.Q248K,SLC37A4:NM_001164279:exon7:c.C523A:p.Q175K 11q23.3 . . . . 0.853 P 0.574 P . . . . 2.215 M . . . . 0.898 6.031 28.0 0.929 0.981 D . . . . 0.257 0 4.71 0.917 0.943 1.000 1.000 17.852 Deleterious (FATHMM)
1042 11 119278165 G T Pathogenic CBL . . . . . . . . . . 11 119278165 119278165 G T splicing CBL NM_005188:exon8:c.1096-1G>T . . 11q23.3 . rs397517076 . . . . . . . . 1 D . . . . . . . 5.489 26.2 0.995 0.995 D . . . . 0.156 0 5.65 0.917 1.048 0.947 0.978 20.106 Deleterious (FATHMM)
1043 11 119278170 A C Pathogenic CBL . . . . . . . . . . 11 119278170 119278170 A C exonic CBL . nonsynonymous SNV CBL:NM_005188:exon8:c.A1100C:p.Q367P 11q23.3 . rs267606704 0.001 D 0.998 D 0.997 D 0.000 D 1 D 2.325 M -3.8 D -5.62 D 0.957 3.355 22.9 0.992 0.990 D 0.998 D 0.909 D 0.707 0 4.51 1.062 1.199 1.000 1.000 13.162 Deleterious
1044 11 119278508 A G Pathogenic/Likely pathogenic CBL . . . . . . . . . . 11 119278508 119278508 A G splicing CBL NM_005188:exon9:c.1228-2A>G . . 11q23.3 . rs727504426 . . . . . . . . 1 D . . . . . . . 5.272 25.7 0.995 0.994 D . . . . 0.156 0 5.83 1.062 1.199 0.981 0.983 16.215 Deleterious (FATHMM)
1045 11 134262556 G A Pathogenic/Likely pathogenic ACAD8 . . . . . . . . . . 11 134262556 134262556 G A exonic ACAD8 . nonsynonymous SNV ACAD8:NM_014384:exon10:c.G1129A:p.G377S 11q25 0.0002 rs121908419 0.0 D 1.0 D 1.0 D 0.000 D 1 A 3.81 H -5.38 D -5.59 D 0.996 7.794 35 0.999 0.981 D 1.039 D 0.985 D 0.707 0 5.75 0.917 0.953 0.999 0.988 19.952 Deleterious
1046 12 2504538 G C Pathogenic CACNA1C . . . . . . . . . . 12 2504538 2504538 G C exonic CACNA1C . nonsynonymous SNV CACNA1C:NM_001129840:exon8:c.G1216C:p.G406R,CACNA1C:NM_001167623:exon8:c.G1216C:p.G406R,CACNA1C:NM_001167624:exon8:c.G1216C:p.G406R,CACNA1C:NM_001167625:exon8:c.G1216C:p.G406R 12p13.33 . rs786205745 0.005 D 1.0 D 1.0 D 0.000 D 1 D 2.865 M -4.38 D -6.8 D 0.835 2.040 16.46 0.999 0.989 D 1.097 D 0.953 D 0.487 0 4.94 0.917 1.048 1.000 1.000 18.362 Deleterious
1047 12 2504944 G A Pathogenic CACNA1C . . . . . . . . . . 12 2504944 2504944 G A exonic CACNA1C . nonsynonymous SNV CACNA1C:NM_000719:exon8:c.G1216A:p.G406R,CACNA1C:NM_001129827:exon8:c.G1216A:p.G406R,CACNA1C:NM_001129829:exon8:c.G1216A:p.G406R,CACNA1C:NM_001129830:exon8:c.G1216A:p.G406R,CACNA1C:NM_001129831:exon8:c.G1216A:p.G406R,CACNA1C:NM_001129832:exon8:c.G1216A:p.G406R,CACNA1C:NM_001129833:exon8:c.G1216A:p.G406R,CACNA1C:NM_001129834:exon8:c.G1216A:p.G406R,CACNA1C:NM_001129835:exon8:c.G1216A:p.G406R,CACNA1C:NM_001129836:exon8:c.G1216A:p.G406R,CACNA1C:NM_001129837:exon8:c.G1216A:p.G406R,CACNA1C:NM_001129838:exon8:c.G1216A:p.G406R,CACNA1C:NM_001129839:exon8:c.G1216A:p.G406R,CACNA1C:NM_001129841:exon8:c.G1216A:p.G406R,CACNA1C:NM_001129842:exon8:c.G1216A:p.G406R,CACNA1C:NM_001129843:exon8:c.G1216A:p.G406R,CACNA1C:NM_001129844:exon8:c.G1207A:p.G403R,CACNA1C:NM_001129846:exon8:c.G1216A:p.G406R,CACNA1C:NM_199460:exon8:c.G1216A:p.G406R 12p13.33 . rs79891110 0.005 D 1.0 D 1.0 D . . 1 A 3.16 M -4.38 D -6.66 D 0.974 6.649 32 0.999 0.996 D 1.095 D 0.960 D 0.487 0 5.27 0.917 1.048 1.000 1.000 19.098 Deleterious
1048 12 2566465 C T Pathogenic/Likely pathogenic CACNA1C . . . . . . . . . . 12 2566465 2566465 C T exonic CACNA1C . nonsynonymous SNV CACNA1C:NM_000719:exon12:c.C1552T:p.R518C,CACNA1C:NM_001129827:exon12:c.C1552T:p.R518C,CACNA1C:NM_001129829:exon12:c.C1552T:p.R518C,CACNA1C:NM_001129830:exon12:c.C1552T:p.R518C,CACNA1C:NM_001129831:exon12:c.C1552T:p.R518C,CACNA1C:NM_001129832:exon12:c.C1552T:p.R518C,CACNA1C:NM_001129833:exon12:c.C1552T:p.R518C,CACNA1C:NM_001129834:exon12:c.C1552T:p.R518C,CACNA1C:NM_001129835:exon12:c.C1552T:p.R518C,CACNA1C:NM_001129836:exon12:c.C1552T:p.R518C,CACNA1C:NM_001129837:exon12:c.C1552T:p.R518C,CACNA1C:NM_001129838:exon12:c.C1552T:p.R518C,CACNA1C:NM_001129839:exon12:c.C1552T:p.R518C,CACNA1C:NM_001129840:exon12:c.C1552T:p.R518C,CACNA1C:NM_001129841:exon12:c.C1552T:p.R518C,CACNA1C:NM_001129842:exon12:c.C1552T:p.R518C,CACNA1C:NM_001129843:exon12:c.C1552T:p.R518C,CACNA1C:NM_001129844:exon12:c.C1543T:p.R515C,CACNA1C:NM_001129846:exon12:c.C1552T:p.R518C,CACNA1C:NM_001167623:exon12:c.C1552T:p.R518C,CACNA1C:NM_001167624:exon12:c.C1552T:p.R518C,CACNA1C:NM_001167625:exon12:c.C1552T:p.R518C,CACNA1C:NM_199460:exon12:c.C1552T:p.R518C 12p13.33 . rs786205748 0.0 D 1.0 D 1.0 D 0.000 D 1 D 3.865 H -3.33 D -6.3 D 0.905 7.187 34 0.999 0.927 D 1.062 D 0.925 D 0.554 0 4.41 0.871 0.038 0.983 0.142 13.122 Deleterious
1049 12 6034812 G A Pathogenic VWF . . . . . . . . . . 12 6034812 6034812 G A exonic VWF . nonsynonymous SNV VWF:NM_000552:exon20:c.G2561T:p.R854L 12p13.31 . . 0.004 D 1.0 D 0.997 D 0.004 N 1 D 3.35 M -0.07 T -6.52 D 0.899 8.152 35 0.999 0.947 D 0.239 D 0.539 D 0.672 0 5.56 0.871 0.892 0.776 1.000 17.027 Deleterious
1050 12 6464888 T G Pathogenic VAMP1|TAPBPL . . . . . . . . . . 12 6464888 6464888 T G exonic;splicing VAMP1;VAMP1 NM_014231:exon4:c.340+2A>C,NM_016830:exon4:c.340+2A>C,NM_001297438:exon4:c.340+2A>C synonymous SNV VAMP1:NM_199245:exon4:c.T342C:p.S114S 12p13.31 . . . . . . . . . . 1 D . . . . . . . 5.508 26.3 0.995 0.987 D . . . . 0.707 0 5.73 1.062 1.199 1.000 1.000 16.017 Deleterious (FATHMM)
1051 12 8605391 G A Pathogenic/Likely pathogenic AICDA . . . . . . . . . . 12 8605391 8605391 G A exonic AICDA . nonsynonymous SNV AICDA:NM_020661:exon3:c.G251T:p.W84L 12p13.31 . . 0.001 D 1.0 D 0.998 D 0.000 D 1 D 3.32 M 0.04 T -12.75 D 0.952 7.198 34 0.988 0.994 D 0.286 D 0.543 D 0.672 0 5.32 0.871 0.935 0.999 1.000 17.562 Deleterious
1052 12 25209896 T G Pathogenic/Likely pathogenic KRAS . . . . . . . . . . 12 25209896 25209896 T G exonic KRAS . nonsynonymous SNV KRAS:NM_004985:exon5:c.T466C:p.F156L 12p12.1 . . 0.008 D 0.962 D 0.687 P . . 1 D . . -1.16 T -0.61 N 0.969 2.382 18.70 0.995 0.995 D 0.325 D 0.607 D 0.732 0 5.43 1.062 1.113 1.000 1.000 14.658 Deleterious
1053 12 25209904 A G Pathogenic/Likely pathogenic KRAS . . . . . . . . . . 12 25209904 25209904 A G exonic KRAS . nonsynonymous SNV KRAS:NM_004985:exon5:c.A458C:p.D153A 12p12.1 . . 0.004 D 0.766 P 0.234 B . . 1 D . . -1.05 T -0.95 N 0.925 2.384 18.72 0.993 0.993 D -0.203 T 0.385 T 0.732 0 5.87 0.991 0.988 0.999 0.999 14.007 Tolerated
1054 12 25209904 A T Pathogenic KRAS . . . . . . . . . . 12 25209904 25209904 A T exonic KRAS . synonymous SNV KRAS:NM_004985:exon5:c.A458A:p.D153D 12p12.1 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
1055 12 25227345 G T Pathogenic/Likely pathogenic KRAS . . . . . . . . . . 12 25227345 25227345 G T exonic KRAS . nonsynonymous SNV KRAS:NM_004985:exon3:c.G179A:p.G60D,KRAS:NM_033360:exon3:c.G179A:p.G60D 12p12.1 . . 0.0 D 1.0 D 1.0 D 0.000 N 1 D 4.445 H -3.26 D -6.56 D 0.933 6.304 29.1 0.999 0.980 D 1.100 D 0.943 D 0.722 0 4.88 0.871 0.919 1.000 1.000 15.570 Deleterious
1056 12 25227346 G C Pathogenic KRAS . . . . . . . . . . 12 25227346 25227346 G C exonic KRAS . synonymous SNV KRAS:NM_004985:exon3:c.G178G:p.G60G,KRAS:NM_033360:exon3:c.G178G:p.G60G 12p12.1 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
1057 12 25227351 C T Pathogenic KRAS . . . . . . . . . . 12 25227351 25227351 C T exonic KRAS . nonsynonymous SNV KRAS:NM_004985:exon3:c.C173A:p.T58K,KRAS:NM_033360:exon3:c.C173A:p.T58K 12p12.1 . . 0.0 D 1.0 D 0.999 D 0.000 N 1 D 4.625 H -2.31 D -5.62 D 0.826 6.166 28.5 0.993 0.989 D 1.060 D 0.890 D 0.722 0 4.87 0.917 0.087 1.000 0.999 15.495 Deleterious
1058 12 25245284 C T Pathogenic KRAS . . . . . . . . . . 12 25245284 25245284 C T exonic KRAS . nonsynonymous SNV KRAS:NM_004985:exon2:c.C101A:p.P34Q,KRAS:NM_033360:exon2:c.C101A:p.P34Q 12p12.1 . . 0.001 D 1.0 D 1.0 D 0.000 D 1 D 3.24 M -0.77 T -6.76 D 0.954 6.247 28.9 0.993 0.990 D 0.748 D 0.784 D 0.732 0 5.68 0.917 1.029 0.999 1.000 18.372 Deleterious
1059 12 25245284 C G Pathogenic/Likely pathogenic KRAS . . . . . . . . . . 12 25245284 25245284 C G exonic KRAS . synonymous SNV KRAS:NM_004985:exon2:c.C101C:p.P34P,KRAS:NM_033360:exon2:c.C101C:p.P34P 12p12.1 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
1060 12 25245320 A G Pathogenic/Likely pathogenic KRAS . . . . . . . . . . 12 25245320 25245320 A G exonic KRAS . nonsynonymous SNV KRAS:NM_004985:exon2:c.A65C:p.Q22P,KRAS:NM_033360:exon2:c.A65C:p.Q22P 12p12.1 . . 0.001 D 1.0 D 0.998 D 0.000 D 1 D 4.045 H -0.51 T -4.99 D 0.98 5.870 27.4 0.996 0.981 D 0.852 D 0.787 D 0.732 0 5.68 0.991 1.042 1.000 1.000 14.768 Deleterious
1061 12 25245345 G A Pathogenic KRAS . . . . . . . . . . 12 25245345 25245345 G A exonic KRAS . nonsynonymous SNV KRAS:NM_004985:exon2:c.G40T:p.V14L,KRAS:NM_033360:exon2:c.G40T:p.V14L 12p12.1 . . 0.002 D 0.999 D 0.965 D 0.000 D 1 D 4.33 H -1.62 D -2.52 D 0.917 7.124 34 0.998 0.984 D 0.966 D 0.840 D 0.732 0 5.68 0.871 0.919 1.000 1.000 18.372 Deleterious
1062 12 32796108 G A Pathogenic/Likely pathogenic PKP2 . . . . . . . . . . 12 32796108 32796108 G A splicing PKP2 NM_004572:exon12:c.2489+1C>T,NM_001005242:exon11:c.2357+1C>T . . 12p11.21 . rs111517471 . . . . . . . . 1 D . . . . . . . 4.486 24.3 0.989 0.925 D . . . . 0.156 0 5.06 0.871 0.931 0.087 0.158 17.583 Deleterious (FATHMM)
1063 12 32802557 G C Pathogenic/Likely pathogenic PKP2 . . . . . . . . . . 12 32802557 32802557 G C splicing PKP2 NM_004572:exon11:c.2146-1C>G,NM_001005242:exon10:c.2014-1C>G . . 12p11.21 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .
1064 12 32822526 C T Pathogenic PKP2 . . . . . . . . . . 12 32822526 32822526 C T exonic PKP2 . nonsynonymous SNV PKP2:NM_001005242:exon8:c.C1780A:p.Q594K,PKP2:NM_004572:exon9:c.C1912A:p.Q638K 12p11.21 . . 0.665 T 0.544 P 0.121 B 0.230 N 0.987 D 1.1 L -0.88 T -1.1 N 0.124 1.878 15.45 0.944 0.873 D -0.706 T 0.226 T 0.732 0 5.05 0.917 1.048 1.000 1.000 10.570 Tolerated
1065 12 32841027 G A Pathogenic/Likely pathogenic PKP2 . . . . . . . . . . 12 32841027 32841027 G A splicing PKP2 NM_004572:exon7:c.1688+1C>T,NM_001005242:exon6:c.1556+1C>T . . 12p11.21 . . . . . . . . . . 1 D . . . . . . . 4.845 24.8 0.992 0.978 D . . . . 0.078 0 4.37 0.871 0.935 0.974 0.979 13.706 Deleterious (FATHMM)
1066 12 32841103 G A Pathogenic/Likely pathogenic PKP2 . . . . . . . . . . 12 32841103 32841103 G A exonic PKP2 . nonsynonymous SNV PKP2:NM_001005242:exon6:c.G1481T:p.W494L,PKP2:NM_004572:exon7:c.G1613T:p.W538L 12p11.21 . . 0.114 T 0.89 P 0.493 P 0.001 D 0.992 D 1.765 L -1.03 T -7.77 D 0.695 5.362 25.9 0.975 0.855 D -0.103 T 0.436 T 0.706 0 5.15 0.871 0.935 0.998 0.974 18.647 Tolerated
1067 12 32850765 G C Pathogenic/Likely pathogenic PKP2 . . . . . . . . . . 12 32850765 32850765 G C splicing PKP2 NM_004572:exon5:c.1378+1C>G,NM_001005242:exon5:c.1378+1C>G . . 12p11.21 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .
1068 12 32850907 C T Pathogenic/Likely pathogenic PKP2 . . . . . . . . . . 12 32850907 32850907 C T exonic PKP2 . synonymous SNV PKP2:NM_001005242:exon5:c.C1237A:p.R413R,PKP2:NM_004572:exon5:c.C1237A:p.R413R 12p11.21 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
1069 12 32868925 T A Pathogenic/Likely pathogenic PKP2 . . . . . . . . . . 12 32868925 32868925 T A splicing PKP2 NM_004572:exon4:c.1170+2A>T,NM_001005242:exon4:c.1170+2A>T . . 12p11.21 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .
1070 12 32868926 G A Pathogenic/Likely pathogenic PKP2 . . . . . . . . . . 12 32868926 32868926 G A splicing PKP2 NM_004572:exon4:c.1170+1C>T,NM_001005242:exon4:c.1170+1C>T . . 12p11.21 . . . . . . . . . . 1 D . . . . . . . 5.431 26.1 0.994 0.950 D . . . . 0.164 0 4.92 0.871 0.837 0.984 0.992 15.936 Deleterious (FATHMM)
1071 12 32868935 C T Pathogenic PKP2 . . . . . . . . . . 12 32868935 32868935 C T exonic PKP2 . synonymous SNV PKP2:NM_001005242:exon4:c.C1162A:p.R388R,PKP2:NM_004572:exon4:c.C1162A:p.R388R 12p11.21 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
1072 12 32868965 C T Pathogenic/Likely pathogenic PKP2 . . . . . . . . . . 12 32868965 32868965 C T exonic PKP2 . nonsynonymous SNV PKP2:NM_001005242:exon4:c.C1132A:p.Q378K,PKP2:NM_004572:exon4:c.C1132A:p.Q378K 12p11.21 . . 0.003 D 0.009 B 0.008 B 0.000 N 1.000 D 1.955 M 0.84 T -3.53 D 0.469 3.137 22.6 0.985 0.965 D -0.885 T 0.151 T 0.732 0 5.05 0.917 0.937 0.999 0.997 16.236 Tolerated
1073 12 32878108 A T Pathogenic/Likely pathogenic PKP2 . . . . . . . . . . 12 32878108 32878108 A T exonic PKP2 . synonymous SNV PKP2:NM_001005242:exon3:c.A772A:p.K258K,PKP2:NM_004572:exon3:c.A772A:p.K258K 12p11.21 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
1074 12 32878512 G A Pathogenic PKP2 . . . . . . . . . . 12 32878512 32878512 G A exonic PKP2 . nonsynonymous SNV PKP2:NM_001005242:exon3:c.G368T:p.W123L,PKP2:NM_004572:exon3:c.G368T:p.W123L 12p11.21 . . 0.381 T 0.022 B 0.018 B 0.846 N 0.613 N 0.97 L -1.27 T -2.03 N 0.361 2.216 17.61 0.953 0.872 D -0.768 T 0.343 T 0.651 0 3.88 -0.105 0.848 0.375 0.999 13.911 Tolerated
1075 12 32878545 A T Pathogenic/Likely pathogenic PKP2 . . . . . . . . . . 12 32878545 32878545 A T splicing PKP2 NM_004572:exon3:c.337-2T>A,NM_001005242:exon3:c.337-2T>A . . 12p11.21 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .
1076 12 32879021 C T Pathogenic PKP2 . . . . . . . . . . 12 32879021 32879021 C T exonic PKP2 . synonymous SNV PKP2:NM_001005242:exon2:c.C235A:p.R79R,PKP2:NM_004572:exon2:c.C235A:p.R79R 12p11.21 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
1077 12 40340400 G A Pathogenic LRRK2 . . . . . . . . . . 12 40340400 40340400 G A exonic LRRK2 . nonsynonymous SNV LRRK2:NM_198578:exon41:c.G6055A:p.G2019S 12q12 0.0004 rs34637584 0.0 D 1.0 D 1.0 D 0.000 D 1 A 3.765 H -6.08 D -5.14 D 0.97 7.654 35 0.998 0.989 D 1.002 D 0.990 D 0.554 0 5.69 0.917 1.048 0.993 0.859 19.822 Deleterious
1078 12 47999953 C A Pathogenic COL2A1 . . . . . . . . . . 12 47999953 47999953 C A exonic COL2A1 . synonymous SNV COL2A1:NM_001844:exon2:c.C258T:p.C86C 12q13.11 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
1079 12 49026905 C T Pathogenic KMT2D . . . . . . . . . . 12 49026905 49026905 C T exonic KMT2D . synonymous SNV KMT2D:NM_003482:exon48:c.C15061A:p.R5021R 12q13.12 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
1080 12 49027256 C T Pathogenic, other KMT2D . . . . . . . . . . 12 49027256 49027256 C T exonic KMT2D . synonymous SNV KMT2D:NM_003482:exon48:c.C14710A:p.R4904R 12q13.12 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
1081 12 49030958 C T Pathogenic KMT2D . . . . . . . . . . 12 49030958 49030958 C T exonic KMT2D . synonymous SNV KMT2D:NM_003482:exon40:c.C13606A:p.R4536R 12q13.12 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
1082 12 49050467 C T Pathogenic KMT2D . . . . . . . . . . 12 49050467 49050467 C T exonic KMT2D . nonsynonymous SNV KMT2D:NM_003482:exon11:c.C3121A:p.Q1041K 12q13.12 . . 0.005 D 0.034 B 0.017 B 0.099 N 0.995 N 0 N -1.25 T -0.5 N 0.173 0.199 4.667 0.754 0.977 D -0.757 T 0.226 T 0.722 0 4.18 0.630 0.813 0.367 0.145 12.438 Tolerated
1083 12 49185101 G A Pathogenic TUBA1A . . . . . . . . . . 12 49185101 49185101 G A exonic TUBA1A . nonsynonymous SNV TUBA1A:NM_001270399:exon4:c.G1265T:p.R422L,TUBA1A:NM_001270400:exon4:c.G1160T:p.R387L,TUBA1A:NM_006009:exon4:c.G1265T:p.R422L 12q13.12 . . 0.0 D 0.049 B 0.154 B 0.000 D 1 D 3.145 M -1.87 D -4.4 D 0.873 6.874 33 0.965 0.977 D 0.271 D 0.660 D 0.722 0 4.62 0.871 0.790 0.999 1.000 13.371 Deleterious
1084 12 49186832 G A Pathogenic/Likely pathogenic TUBA1A . . . . . . . . . . 12 49186832 49186832 G A exonic TUBA1A . nonsynonymous SNV TUBA1A:NM_001270399:exon2:c.G5T:p.R2L,TUBA1A:NM_006009:exon2:c.G5T:p.R2L 12q13.12 . . 0.0 D 0.994 D 0.967 D 0.000 D 1 D 3.92 H -0.49 T -3.44 D 0.951 7.694 35 0.997 0.993 D 0.629 D 0.676 D 0.706 0 5.29 0.871 0.852 0.999 0.997 18.093 Deleterious
1085 12 51765675 G A Pathogenic/Likely pathogenic SCN8A . . . . . . . . . . 12 51765675 51765675 G A exonic SCN8A . nonsynonymous SNV SCN8A:NM_001177984:exon16:c.G2549A:p.R850Q,SCN8A:NM_014191:exon16:c.G2549A:p.R850Q 12q13.13 . rs587780586 0.0 D 1.0 D 0.999 D 0.000 D 1 D 4.27 H -6.27 D -3.73 D 0.973 7.258 34 0.999 0.997 D 0.945 D 0.992 D 0.707 0 4.45 0.917 1.048 1.000 1.000 18.411 Deleterious
1086 12 51807100 C T Pathogenic/Likely pathogenic SCN8A . . . . . . . . . . 12 51807100 51807100 C T exonic SCN8A . nonsynonymous SNV SCN8A:NM_001177984:exon26:c.C5491T:p.R1831W,SCN8A:NM_014191:exon27:c.C5614T:p.R1872W 12q13.13 . rs796053228 0.0 D 1.0 D 1.0 D 0.000 D 1 D 2.43 M -4.0 D -6.84 D 0.905 6.365 29.4 0.998 0.837 D 1.014 D 0.921 D 0.707 0 1.78 0.871 0.852 1.000 1.000 13.219 Deleterious
1087 12 76348214 C T Pathogenic BBS10 . . . . . . . . . . 12 76348214 76348214 C T exonic BBS10 . synonymous SNV BBS10:NM_024685:exon1:c.C145A:p.R49R 12q21.2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
1088 12 88077263 G T Pathogenic CEP290 . . . . . . . . . . 12 88077263 88077263 G T exonic CEP290 . nonsynonymous SNV CEP290:NM_025114:exon41:c.G5668A:p.G1890R 12q21.32 . . 0.999 T 0.0 B 0.0 B 0.000 N 0.998 N -2.005 N 0.59 T 2.0 N 0.179 1.076 11.08 0.089 0.052 N -0.963 T 0.043 T 0.651 0 2.73 0.021 0.082 0.845 0.991 9.071 Tolerated
1089 12 88101183 A G Pathogenic CEP290 . . . . . . . . . . 12 88101183 88101183 A G intronic CEP290 . . . 12q21.32 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . probably Tolerated (Intron)
1090 12 101770182 C T Pathogenic GNPTAB . . . . . . . . . . 12 101770182 101770182 C T exonic GNPTAB . synonymous SNV GNPTAB:NM_024312:exon10:c.C1123A:p.R375R 12q23.2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
1091 12 102840399 G A Pathogenic PAH . . . . . . . . . . 12 102840399 102840399 G A splicing PAH NM_000277:exon12:c.1315+1C>T . . 12q23.2 . . . . . . . . . . 1 D . . . . . . . 5.266 25.7 0.995 0.984 D . . . . 0.061 0 5.33 0.871 0.935 0.987 0.996 18.147 Deleterious (FATHMM)
1092 12 102840472 G A Pathogenic PAH . . . . . . . . . . 12 102840472 102840472 G A exonic PAH . nonsynonymous SNV PAH:NM_000277:exon12:c.G1243T:p.D415Y 12q23.2 . . 0.0 D 0.999 D 0.989 D 0.000 D 1.000 D 2.575 M -6.29 D -3.54 D 0.939 6.757 32 0.994 0.878 D 1.095 D 0.981 D 0.638 0 4.74 0.871 0.935 0.999 0.960 7.614 Deleterious
1093 12 102840474 A G Pathogenic PAH . . . . . . . . . . 12 102840474 102840474 A G exonic PAH . nonsynonymous SNV PAH:NM_000277:exon12:c.A1241C:p.Y414S 12q23.2 . . 0.0 D 1.0 D 0.999 D 0.000 D 1 D 3.955 H -6.53 D -8.1 D 0.981 6.217 28.8 0.993 0.966 D 0.956 D 0.992 D 0.638 0 5.63 0.991 1.061 0.999 0.914 14.816 Deleterious
1094 12 102840493 C T Pathogenic PAH . . . . . . . . . . 12 102840493 102840493 C T exonic PAH . synonymous SNV PAH:NM_000277:exon12:c.C1222A:p.R408R 12q23.2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
1095 12 102840507 C T Pathogenic PAH . . . . . . . . . . 12 102840507 102840507 C T exonic PAH . nonsynonymous SNV PAH:NM_000277:exon12:c.C1208A:p.A403D 12q23.2 . . 0.001 D 0.995 D 0.99 D 0.000 D 1 D 3.835 H -6.35 D -4.59 D 0.865 6.823 32 0.998 0.958 D 0.985 D 0.991 D 0.638 0 5.63 0.917 1.048 0.985 1.000 18.445 Deleterious
1096 12 102843645 G C Pathogenic/Likely pathogenic, not provided PAH . . . . . . . . . . 12 102843645 102843645 G C splicing PAH NM_000277:exon11:c.1199+1C>G . . 12q23.2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .
1097 12 102843676 A G Pathogenic PAH . . . . . . . . . . 12 102843676 102843676 A G exonic PAH . nonsynonymous SNV PAH:NM_000277:exon11:c.A1169C:p.E390A 12q23.2 . . 0.002 D 0.951 P 0.843 P 0.000 D 1 D 3.465 M -6.43 D -4.77 D 0.846 5.299 25.8 0.994 0.988 D 0.985 D 0.989 D 0.638 0 5.34 0.991 1.011 0.873 0.835 15.322 Deleterious
1098 12 102843683 G A Pathogenic PAH . . . . . . . . . . 12 102843683 102843683 G A exonic PAH . nonsynonymous SNV PAH:NM_000277:exon11:c.G1162T:p.V388L 12q23.2 . rs62516101 0.101 T 0.078 B 0.133 B 0.000 D 1 D 1.775 L -6.57 D -1.47 N 0.966 3.254 22.8 0.983 0.976 D 1.050 D 0.965 D 0.638 0 5.34 0.871 0.892 0.650 0.484 12.403 Deleterious
1099 12 102843688 A G Pathogenic/Likely pathogenic, not provided PAH . . . . . . . . . . 12 102843688 102843688 A G exonic PAH . nonsynonymous SNV PAH:NM_000277:exon11:c.A1157C:p.Y386S 12q23.2 . . 0.0 D 1.0 D 1.0 D 0.000 D 1 D 4.4 H -6.89 D -8.51 D 0.985 5.593 26.5 0.990 0.988 D 0.912 D 0.995 D 0.638 0 5.34 0.991 1.011 0.654 0.743 15.322 Deleterious
1100 12 102843706 C T Pathogenic/Likely pathogenic, not provided PAH . . . . . . . . . . 12 102843706 102843706 C T exonic PAH . nonsynonymous SNV PAH:NM_000277:exon11:c.C1139A:p.T380K 12q23.2 . . 0.015 D 1.0 D 0.995 D 0.000 D 1 D 3.975 H -6.18 D -5.78 D 0.852 5.805 27.1 0.989 0.977 D 0.972 D 0.992 D 0.638 0 5.34 0.917 0.998 0.993 0.661 19.048 Deleterious
1101 12 102843777 C A Pathogenic PAH . . . . . . . . . . 12 102843777 102843777 C A exonic PAH . synonymous SNV PAH:NM_000277:exon11:c.C1068T:p.Y356Y 12q23.2 . rs62516095 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
1102 12 102843782 C T Pathogenic/Likely pathogenic, not provided PAH . . . . . . . . . . 12 102843782 102843782 C T intronic PAH . . . 12q23.2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . probably Tolerated (Intron)
1103 12 102843790 G A Pathogenic PAH . . . . . . . . . . 12 102843790 102843790 G A intronic PAH . . . 12q23.2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . probably Tolerated (Intron)
1104 12 102844356 T C Pathogenic PAH . . . . . . . . . . 12 102844356 102844356 T C exonic PAH . nonsynonymous SNV PAH:NM_000277:exon10:c.T1045G:p.S349A 12q23.2 . rs62508646 0.002 D 0.998 D 0.993 D 0.000 D 1 D 4.485 H -6.82 D -2.86 D 0.939 6.071 28.1 0.998 0.998 D 0.910 D 0.995 D 0.638 0 5.81 1.062 1.199 0.997 0.986 16.162 Deleterious
1105 12 102844368 G T Pathogenic PAH . . . . . . . . . . 12 102844368 102844368 G T exonic PAH . nonsynonymous SNV PAH:NM_000277:exon10:c.G1033A:p.A345T 12q23.2 . rs62516062 0.002 D 1.0 D 0.997 D 0.000 D 1 D 4.345 H -7.01 D -3.79 D 0.979 7.410 34 0.999 0.990 D 0.918 D 0.996 D 0.638 0 5.81 0.871 0.935 1.000 1.000 20.078 Deleterious
1106 12 102846932 T C Pathogenic/Likely pathogenic, not provided PAH . . . . . . . . . . 12 102846932 102846932 T C exonic PAH . nonsynonymous SNV PAH:NM_000277:exon9:c.T932G:p.L311R 12q23.2 . . 0.0 D 1.0 D 1.0 D 0.000 D 1 D 2.92 M -6.84 D -5.84 D 0.99 6.075 28.1 0.997 0.997 D 0.974 D 0.991 D 0.638 0 5.38 1.062 1.082 0.987 0.946 15.398 Deleterious
1107 12 102846948 A G Pathogenic/Likely pathogenic, not provided PAH . . . . . . . . . . 12 102846948 102846948 A G exonic PAH . nonsynonymous SNV PAH:NM_000277:exon9:c.A916C:p.I306L 12q23.2 . . 0.105 T 0.991 D 0.949 D 0.000 D 1 D 2.65 M -6.46 D -1.94 N 0.804 4.639 24.5 0.990 0.995 D 1.039 D 0.987 D 0.638 0 5.38 0.991 0.960 1.000 0.974 15.398 Deleterious
1108 12 102851701 G T Pathogenic PAH . . . . . . . . . . 12 102851701 102851701 G T exonic PAH . nonsynonymous SNV PAH:NM_000277:exon8:c.G898A:p.A300T 12q23.2 . . 0.0 D 1.0 D 0.999 D 0.000 N 1 D 4.46 H -7.09 D -3.89 D 0.982 7.554 34 0.999 0.972 D 0.910 D 0.996 D 0.638 0 5.51 0.871 0.935 1.000 1.000 19.779 Deleterious
1109 12 102851703 T G Pathogenic/Likely pathogenic, not provided PAH . . . . . . . . . . 12 102851703 102851703 T G exonic PAH . nonsynonymous SNV PAH:NM_000277:exon8:c.T896C:p.F299S 12q23.2 . . 0.0 D 1.0 D 1.0 D 0.000 D 1 D 4.355 H -7.0 D -7.78 D 0.982 6.969 33 0.999 0.980 D 0.904 D 0.996 D 0.638 0 5.51 1.062 1.199 0.999 1.000 15.919 Deleterious
1110 12 102852815 C T Pathogenic PAH . . . . . . . . . . 12 102852815 102852815 C T exonic PAH . nonsynonymous SNV PAH:NM_000277:exon7:c.C842A:p.P281H 12q23.2 . . 0.0 D 1.0 D 1.0 D 0.000 D 1 D 4.48 H -7.91 D -8.63 D 0.97 6.324 29.2 0.997 0.993 D 0.910 D 0.998 D 0.638 0 5.73 0.917 1.048 0.997 0.980 19.896 Deleterious
1111 12 102852819 G A Pathogenic PAH . . . . . . . . . . 12 102852819 102852819 G A exonic PAH . stopgain PAH:NM_000277:exon7:c.G838T:p.E280X 12q23.2 . . . . . . . . 0.000 D 1 A . . . . . . . 13.343 41 0.997 0.988 D . . . . 0.638 0 5.73 0.871 0.935 0.996 0.779 19.896 Deleterious (FATHMM)
1112 12 102852828 T G Pathogenic PAH . . . . . . . . . . 12 102852828 102852828 T G exonic PAH . nonsynonymous SNV PAH:NM_000277:exon7:c.T829C:p.Y277H 12q23.2 . . 0.548 T 1.0 D 1.0 D 0.000 N 1 D 2.045 M -6.82 D -4.79 D 0.75 3.609 23.2 0.996 0.979 D 1.165 D 0.984 D 0.638 0 4.58 1.062 1.199 0.998 0.944 11.516 Deleterious
1113 12 102852875 G A Pathogenic PAH . . . . . . . . . . 12 102852875 102852875 G A exonic PAH . nonsynonymous SNV PAH:NM_000277:exon7:c.G782T:p.R261L 12q23.2 . . 0.001 D 1.0 D 0.998 D 0.000 D 1 D 4.26 H -6.72 D -6.61 D 0.991 8.087 35 0.999 0.988 D 0.929 D 0.995 D 0.638 0 5.72 0.871 0.935 0.997 1.000 19.876 Deleterious
1114 12 102852903 C T Pathogenic/Likely pathogenic, not provided PAH . . . . . . . . . . 12 102852903 102852903 C T exonic PAH . synonymous SNV PAH:NM_000277:exon7:c.C754A:p.R252R 12q23.2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
1115 12 102852912 C T Pathogenic PAH . . . . . . . . . . 12 102852912 102852912 C T exonic PAH . nonsynonymous SNV PAH:NM_000277:exon7:c.C745A:p.L249I 12q23.2 . . 0.001 D 0.994 D 0.975 D 0.000 D 1 D 1.335 L -6.07 D -1.92 N 0.727 6.247 28.9 0.995 0.989 D 1.102 D 0.971 D 0.638 0 5.03 0.917 1.048 0.995 0.998 14.970 Deleterious
1116 12 102852930 C T Pathogenic PAH . . . . . . . . . . 12 102852930 102852930 C T exonic PAH . synonymous SNV PAH:NM_000277:exon7:c.C727A:p.R243R 12q23.2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
1117 12 102852936 C T Pathogenic PAH . . . . . . . . . . 12 102852936 102852936 C T exonic PAH . nonsynonymous SNV PAH:NM_000277:exon7:c.C721A:p.R241S 12q23.2 . . 0.433 T 0.835 P 0.677 P 0.000 D 1 D 0.99 L -6.06 D -0.13 N 0.745 5.210 25.6 0.996 0.973 D 1.091 D 0.959 D 0.638 0 5.92 0.917 1.048 1.000 1.000 20.317 Deleterious
1118 12 102855204 T C Pathogenic/Likely pathogenic, not provided PAH . . . . . . . . . . 12 102855204 102855204 T C exonic PAH . nonsynonymous SNV PAH:NM_000277:exon6:c.T638G:p.L213R 12q23.2 . . 0.0 D 1.0 D 1.0 D 0.000 D 1 D 4.275 H -6.84 D -5.73 D 0.946 6.352 29.4 0.998 0.993 D 0.917 D 0.994 D 0.638 0 5.63 1.062 1.199 1.000 1.000 15.835 Deleterious
1119 12 102855231 A G Pathogenic/Likely pathogenic, not provided PAH . . . . . . . . . . 12 102855231 102855231 A G exonic PAH . nonsynonymous SNV PAH:NM_000277:exon6:c.A611C:p.Y204S 12q23.2 . . 0.143 T 0.05 B 0.158 B 0.000 N 1.000 D -0.24 N -6.01 D 0.72 N 0.409 2.541 19.73 0.941 0.952 D 0.772 D 0.903 D 0.638 0 4.7 0.991 1.061 0.997 0.997 13.039 Deleterious
1120 12 102855309 A G Pathogenic PAH . . . . . . . . . . 12 102855309 102855309 A G exonic PAH . nonsynonymous SNV PAH:NM_000277:exon6:c.A533C:p.E178A 12q23.2 . . 0.063 T 0.512 P 0.634 P 0.001 D 0.998 D 1.81 L -6.37 D -3.65 D 0.515 4.046 23.7 0.996 0.927 D 1.041 D 0.977 D 0.638 0 5.73 0.991 1.061 0.998 0.998 11.507 Deleterious
1121 12 102855315 G T Pathogenic PAH . . . . . . . . . . 12 102855315 102855315 G T exonic PAH . nonsynonymous SNV PAH:NM_000277:exon6:c.G527A:p.R176Q 12q23.2 . rs74486803 0.048 D 0.143 B 0.051 B 0.015 N 1.000 N 1.88 L -6.11 D -2.22 N 0.668 4.162 23.8 0.993 0.135 N 0.936 D 0.943 D 0.554 0 0.698 -0.032 -0.347 0.981 0.949 9.429 Deleterious
1122 12 102855316 C T Pathogenic PAH . . . . . . . . . . 12 102855316 102855316 C T exonic PAH . synonymous SNV PAH:NM_000277:exon6:c.C526A:p.R176R 12q23.2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
1123 12 102866597 C G Pathogenic PAH . . . . . . . . . . 12 102866597 102866597 C G exonic PAH . synonymous SNV PAH:NM_000277:exon5:c.C508C:p.H170H 12q23.2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
1124 12 102866632 G A Pathogenic PAH . . . . . . . . . . 12 102866632 102866632 G A exonic PAH . nonsynonymous SNV PAH:NM_000277:exon5:c.G473T:p.R158L 12q23.2 . . 0.0 D 1.0 D 1.0 D 0.000 D 1 D 4.12 H -6.72 D -6.78 D 0.921 7.541 34 0.999 0.964 D 0.923 D 0.994 D 0.638 0 5.17 0.871 0.935 0.993 0.992 14.650 Deleterious
1125 12 102877457 G T Pathogenic PAH . . . . . . . . . . 12 102877457 102877457 G T intronic PAH . . . 12q23.2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . probably Tolerated (Intron)
1126 12 102877461 G A Pathogenic/Likely pathogenic, not provided PAH . . . . . . . . . . 12 102877461 102877461 G A splicing PAH NM_000277:exon4:c.441+1C>T . . 12q23.2 . . . . . . . . . . 1 D . . . . . . . 5.166 25.5 0.994 0.948 D . . . . 0.054 0 5.86 0.871 0.935 0.918 0.850 20.177 Deleterious (FATHMM)
1127 12 102894756 C T Pathogenic PAH . . . . . . . . . . 12 102894756 102894756 C T exonic PAH . synonymous SNV PAH:NM_000277:exon3:c.C331A:p.R111R 12q23.2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
1128 12 102894883 A T Pathogenic/Likely pathogenic, not provided PAH . . . . . . . . . . 12 102894883 102894883 A T exonic PAH . synonymous SNV PAH:NM_000277:exon3:c.A204A:p.R68R 12q23.2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
1129 12 102894893 T C Pathogenic PAH . . . . . . . . . . 12 102894893 102894893 T C exonic PAH . nonsynonymous SNV PAH:NM_000277:exon3:c.T194G:p.I65S 12q23.2 . rs75193786 0.0 D 1.0 D 1.0 D 0.000 D 1 D 4.395 H -5.68 D -5.41 D 0.996 6.593 31 0.995 0.988 D 0.982 D 0.989 D 0.615 0 6.17 1.062 1.199 1.000 1.000 16.822 Deleterious
1130 12 102912794 T G Pathogenic/Likely pathogenic, not provided PAH . . . . . . . . . . 12 102912794 102912794 T G exonic PAH . synonymous SNV PAH:NM_000277:exon2:c.T165C:p.F55F 12q23.2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
1131 12 102912816 T C Pathogenic PAH . . . . . . . . . . 12 102912816 102912816 T C exonic PAH . nonsynonymous SNV PAH:NM_000277:exon2:c.T143G:p.L48W 12q23.2 . . 0.0 D 1.0 D 1.0 D 0.000 D 1 D 4.49 H -6.67 D -5.48 D 0.934 5.589 26.5 0.964 0.934 D 0.926 D 0.995 D 0.638 0 5.46 1.062 1.199 0.992 0.997 13.057 Deleterious
1132 12 102912842 C G Pathogenic PAH . . . . . . . . . . 12 102912842 102912842 C G exonic PAH . synonymous SNV PAH:NM_000277:exon2:c.C117C:p.F39F 12q23.2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
1133 12 102917066 G T Pathogenic PAH . . . . . . . . . . 12 102917066 102917066 G T intronic PAH . . . 12q23.2 . rs62514895 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . probably Tolerated (Intron)
1134 12 102917130 A G Pathogenic/Likely pathogenic, not provided PAH . . . . . . . . . . 12 102917130 102917130 A G exonic PAH . nonsynonymous SNV PAH:NM_000277:exon1:c.A1C:p.M1L 12q23.2 . . 0.597 T 0.696 P 0.746 P 0.765 N 1 D . . -4.39 D -0.47 N 0.982 0.267 5.372 0.890 0.874 D 0.903 D 0.959 D 0.405 1 5.2 0.991 1.061 0.339 0.287 11.636 Deleterious
1135 12 109557081 C T Pathogenic MMAB . . . . . . . . . . 12 109557081 109557081 C T exonic MMAB . nonsynonymous SNV MMAB:NM_052845:exon9:c.C700A:p.Q234K 12q24.11 . . 0.357 T 0.0 B 0.0 B 0.052 N 0.909 N 0.155 N -2.59 D -0.08 N 0.22 1.626 13.99 0.887 0.689 D -0.754 T 0.382 T 0.706 0 4.52 -0.044 1.048 0.927 0.920 11.340 Tolerated
1136 12 109561068 C T Pathogenic MMAB . . . . . . . . . . 12 109561068 109561068 C T exonic MMAB . synonymous SNV MMAB:NM_052845:exon7:c.C556A:p.R186R 12q24.11 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
1137 12 109591275 T C Pathogenic MVK . . . . . . . . . . 12 109591275 109591275 T C exonic MVK . nonsynonymous SNV MVK:NM_001301182:exon8:c.T647C:p.I216T,MVK:NM_000431:exon9:c.T803C:p.I268T,MVK:NM_001114185:exon9:c.T803C:p.I268T 12q24.11 0.0003 rs104895304 0.003 D 0.983 D 0.945 D 0.000 D 1 A 2.865 M -3.34 D -3.86 D 0.895 5.126 25.4 0.997 0.893 D 1.060 D 0.879 D 0.732 0 4.6 0.991 1.061 0.070 0.239 10.291 Deleterious
1138 12 109596515 G A Pathogenic MVK . . . . . . . . . . 12 109596515 109596515 G A exonic MVK . nonsynonymous SNV MVK:NM_001301182:exon10:c.G973A:p.V325I,MVK:NM_000431:exon11:c.G1129A:p.V377I,MVK:NM_001114185:exon11:c.G1129A:p.V377I 12q24.11 0.0017 rs28934897 0.149 T 0.45 B 0.15 B 0.000 N 1.000 A 0.205 N -3.42 D -0.53 N 0.758 2.617 20.3 0.981 0.932 D 0.071 D 0.580 D 0.635 0 3.17 -0.011 0.135 0.037 0.006 7.539 Deleterious
1139 12 109798823 C T Pathogenic TRPV4 . . . . . . . . . . 12 109798823 109798823 C T exonic TRPV4 . synonymous SNV TRPV4:NM_001177428:exon4:c.C802A:p.R268R,TRPV4:NM_001177433:exon4:c.C802A:p.R268R,TRPV4:NM_147204:exon5:c.C943A:p.R315R,TRPV4:NM_001177431:exon6:c.C841A:p.R281R,TRPV4:NM_021625:exon6:c.C943A:p.R315R 12q24.11 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
1140 12 109800665 G A Pathogenic TRPV4 . . . . . . . . . . 12 109800665 109800665 G A exonic TRPV4 . nonsynonymous SNV TRPV4:NM_147204:exon4:c.G806T:p.R269L,TRPV4:NM_001177431:exon5:c.G704T:p.R235L,TRPV4:NM_021625:exon5:c.G806T:p.R269L 12q24.11 . . 0.259 T 0.999 D 0.854 P 0.000 D 1 D 0.645 N -2.48 D -2.38 N 0.903 6.316 29.2 0.998 0.881 D 0.046 D 0.626 D 0.615 0 4.92 0.871 0.852 0.984 0.955 17.087 Deleterious
1141 12 109803009 C T Pathogenic TRPV4 . . . . . . . . . . 12 109803009 109803009 C T exonic TRPV4 . nonsynonymous SNV TRPV4:NM_001177428:exon3:c.C694A:p.R232S,TRPV4:NM_001177433:exon3:c.C694A:p.R232S,TRPV4:NM_147204:exon3:c.C694A:p.R232S,TRPV4:NM_001177431:exon4:c.C592A:p.R198S,TRPV4:NM_021625:exon4:c.C694A:p.R232S 12q24.11 . . 0.634 T 0.982 D 0.643 P 0.000 D 1.000 D 0.345 N -0.49 T 0.17 N 0.941 2.546 19.76 0.980 0.608 D -0.349 T 0.494 T 0.707 0 2.56 -0.020 0.017 0.982 0.577 11.25 Tolerated
1142 12 110914287 G A Pathogenic/Likely pathogenic, not provided MYL2 . . . . . . . . . . 12 110914287 110914287 G A exonic MYL2 . nonsynonymous SNV MYL2:NM_000432:exon4:c.G173T:p.R58L 12q24.11 . . 0.002 D 0.999 D 0.996 D 0.000 D 1 D -0.39 N -0.84 T -4.05 D 0.879 5.982 27.8 0.998 0.937 D -0.301 T 0.366 T 0.428 0 4.88 0.824 0.935 0.933 0.988 16.796 Tolerated
1143 12 110919133 G A Pathogenic/Likely pathogenic, not provided MYL2 . . . . . . . . . . 12 110919133 110919133 G A exonic MYL2 . stopgain MYL2:NM_000432:exon2:c.G64T:p.E22X 12q24.11 . rs104894368 . . . . . . 0.000 D 1 A . . . . . . . 11.448 37 0.998 0.967 D . . . . 0.428 0 4.44 0.871 0.071 0.998 0.972 12.780 Deleterious (FATHMM)
1144 12 112419116 C T Pathogenic PTPN11 . . . . . . . . . . 12 112419116 112419116 C T exonic PTPN11 . nonsynonymous SNV PTPN11:NM_002834:exon1:c.C5T:p.T2I,PTPN11:NM_080601:exon1:c.C5T:p.T2I 12q24.13 . rs267606990 0.044 D 0.191 B 0.109 B . . 0.999 D 1.075 L 2.87 T -0.18 N 0.806 4.094 23.7 0.993 0.581 D -0.683 T 0.231 T 0.442 0 3.82 0.853 0.856 1.000 1.000 12.147 Tolerated
1145 12 112446385 A G Pathogenic PTPN11 . . . . . . . . . . 12 112446385 112446385 A G exonic PTPN11 . nonsynonymous SNV PTPN11:NM_002834:exon2:c.A124G:p.T42A,PTPN11:NM_080601:exon2:c.A124G:p.T42A 12q24.13 . rs397507501 0.115 T 0.75 P 0.475 P 0.000 D 1 D 0.485 N -2.54 D -3.31 D 0.796 2.848 21.6 0.998 0.975 D 0.038 D 0.518 D 0.732 0 4.77 1.062 1.199 0.999 0.978 12.300 Deleterious
1146 12 112450352 A G Pathogenic PTPN11 . . . . . . . . . . 12 112450352 112450352 A G exonic PTPN11 . nonsynonymous SNV PTPN11:NM_002834:exon3:c.A172G:p.N58D,PTPN11:NM_080601:exon3:c.A172G:p.N58D 12q24.13 . rs397507505 0.018 D 0.998 D 0.98 D 0.000 D 1 D 1.62 L -2.39 D -4.31 D 0.379 5.848 27.3 0.998 0.993 D 0.641 D 0.763 D 0.722 0 5.63 1.062 1.193 1.000 1.000 15.855 Deleterious
1147 12 112450352 A C Pathogenic PTPN11 . . . . . . . . . . 12 112450352 112450352 A C exonic PTPN11 . nonsynonymous SNV PTPN11:NM_002834:exon3:c.A172C:p.N58H,PTPN11:NM_080601:exon3:c.A172C:p.N58H 12q24.13 . rs397507505 0.041 D 0.998 D 0.838 P 0.000 D 1 D 1.82 L -2.42 D -4.31 D 0.528 5.095 25.3 0.997 0.994 D 0.615 D 0.746 D 0.722 0 5.63 1.062 1.193 1.000 1.000 15.855 Deleterious
1148 12 112450354 C G Pathogenic/Likely pathogenic PTPN11 . . . . . . . . . . 12 112450354 112450354 C G exonic PTPN11 . nonsynonymous SNV PTPN11:NM_002834:exon3:c.C174G:p.N58K,PTPN11:NM_080601:exon3:c.C174G:p.N58K 12q24.13 . rs397507506 0.005 D 1.0 D 0.992 D 0.000 D 1.000 D 1.41 L -2.29 D -5.18 D 0.328 5.971 27.7 0.998 0.963 D 0.262 D 0.662 D 0.722 0 3.79 0.033 0.931 0.999 1.000 9.885 Deleterious
1149 12 112450354 C A Pathogenic PTPN11 . . . . . . . . . . 12 112450354 112450354 C A exonic PTPN11 . nonsynonymous SNV PTPN11:NM_002834:exon3:c.C174A:p.N58K,PTPN11:NM_080601:exon3:c.C174A:p.N58K 12q24.13 . rs397507506 0.005 D 1.0 D 0.992 D 0.000 D 1.000 D 1.41 L -2.29 D -5.18 D 0.328 6.408 29.6 0.998 0.960 D 0.262 D 0.662 D 0.722 0 3.79 0.033 0.931 0.999 1.000 9.885 Deleterious
1150 12 112450358 G T Pathogenic PTPN11 . . . . . . . . . . 12 112450358 112450358 G T exonic PTPN11 . nonsynonymous SNV PTPN11:NM_002834:exon3:c.G178T:p.G60C,PTPN11:NM_080601:exon3:c.G178T:p.G60C 12q24.13 . rs397507507 0.0 D 1.0 D 1.0 D 0.000 D 1 D 4.24 H -4.15 D -7.57 D 0.959 6.618 32 0.997 0.995 D 1.083 D 0.968 D 0.722 0 5.63 0.917 1.044 0.999 1.000 19.698 Deleterious
1151 12 112450358 G A Pathogenic/Likely pathogenic PTPN11 . . . . . . . . . . 12 112450358 112450358 G A exonic PTPN11 . nonsynonymous SNV PTPN11:NM_002834:exon3:c.G178A:p.G60S,PTPN11:NM_080601:exon3:c.G178A:p.G60S 12q24.13 . rs397507507 0.003 D 0.997 D 0.995 D 0.000 D 1 D 1.96 M -4.03 D -4.88 D 0.924 6.623 32 0.999 0.994 D 1.052 D 0.927 D 0.722 0 5.63 0.917 1.044 0.999 1.000 19.698 Deleterious
1152 12 112450359 G C Pathogenic PTPN11 . . . . . . . . . . 12 112450359 112450359 G C exonic PTPN11 . nonsynonymous SNV PTPN11:NM_002834:exon3:c.G179C:p.G60A,PTPN11:NM_080601:exon3:c.G179C:p.G60A 12q24.13 . rs397507509 0.014 D 0.999 D 0.989 D 0.000 D 1 D 2.265 M -4.06 D -4.91 D 0.909 5.820 27.2 0.999 0.994 D 1.050 D 0.936 D 0.722 0 5.9 0.917 1.044 0.997 0.999 20.279 Deleterious
1153 12 112450361 G A Pathogenic PTPN11 . . . . . . . . . . 12 112450361 112450361 G A exonic PTPN11 . nonsynonymous SNV PTPN11:NM_002834:exon3:c.G181A:p.D61N,PTPN11:NM_080601:exon3:c.G181A:p.D61N 12q24.13 . rs397507510 0.002 D 0.998 D 0.986 D 0.000 D 1 D 1.185 L -3.97 D -3.91 D 0.186 6.855 33 0.999 0.993 D 0.992 D 0.905 D 0.722 0 5.9 0.917 1.044 0.995 0.998 20.279 Deleterious
1154 12 112450362 A G Pathogenic PTPN11 . . . . . . . . . . 12 112450362 112450362 A G exonic PTPN11 . nonsynonymous SNV PTPN11:NM_002834:exon3:c.A182G:p.D61G,PTPN11:NM_080601:exon3:c.A182G:p.D61G 12q24.13 . rs121918461 0.031 D 0.908 P 0.79 P 0.000 N 1 A -0.005 N -3.78 D -5.64 D 0.979 6.333 29.3 0.998 0.991 D 0.866 D 0.793 D 0.722 0 5.9 1.062 1.193 0.995 0.998 16.329 Deleterious
1155 12 112450364 T G Pathogenic PTPN11 . . . . . . . . . . 12 112450364 112450364 T G exonic PTPN11 . nonsynonymous SNV PTPN11:NM_002834:exon3:c.T184G:p.Y62D,PTPN11:NM_080601:exon3:c.T184G:p.Y62D 12q24.13 . rs121918460 0.011 D 0.994 D 0.932 D 0.000 D 1 A 2.73 M -2.32 D -7.24 D 0.988 6.213 28.7 0.992 0.988 D 0.755 D 0.797 D 0.722 0 5.9 0.991 1.057 0.997 0.998 16.329 Deleterious
1156 12 112450368 A G Pathogenic PTPN11 . . . . . . . . . . 12 112450368 112450368 A G exonic PTPN11 . nonsynonymous SNV PTPN11:NM_002834:exon3:c.A188G:p.Y63C,PTPN11:NM_080601:exon3:c.A188G:p.Y63C 12q24.13 . rs121918459 0.0 D 1.0 D 0.998 D 0.000 D 1 A 3.55 H -2.68 D -7.07 D 0.968 5.985 27.8 0.998 0.990 D 1.024 D 0.892 D 0.722 0 5.63 1.062 1.193 1.000 1.000 15.855 Deleterious
1157 12 112450385 G C Pathogenic PTPN11 . . . . . . . . . . 12 112450385 112450385 G C exonic PTPN11 . nonsynonymous SNV PTPN11:NM_002834:exon3:c.G205C:p.E69Q,PTPN11:NM_080601:exon3:c.G205C:p.E69Q 12q24.13 . rs397507511 0.002 D 1.0 D 0.986 D 0.000 D 1 D 1.55 L -2.41 D -2.57 D 0.846 5.384 25.9 0.997 0.992 D 0.538 D 0.753 D 0.722 0 5.01 0.917 1.044 0.999 0.999 14.802 Deleterious
1158 12 112450389 A G Pathogenic/Likely pathogenic PTPN11 . . . . . . . . . . 12 112450389 112450389 A G exonic PTPN11 . nonsynonymous SNV PTPN11:NM_002834:exon3:c.A209G:p.K70R,PTPN11:NM_080601:exon3:c.A209G:p.K70R 12q24.13 . rs397516801 0.038 D 0.945 P 0.655 P 0.000 D 1 D 1.545 L -2.43 D -2.09 N 0.613 5.873 27.4 0.999 0.991 D 0.395 D 0.687 D 0.722 0 5.9 1.062 1.193 0.998 1.000 16.329 Deleterious
1159 12 112450391 T C Pathogenic/Likely pathogenic PTPN11 . . . . . . . . . . 12 112450391 112450391 T C exonic PTPN11 . nonsynonymous SNV PTPN11:NM_002834:exon3:c.T211C:p.F71L,PTPN11:NM_080601:exon3:c.T211C:p.F71L 12q24.13 . rs397507512 0.0 D 1.0 D 0.99 D 0.000 D 1 D 3.78 H -4.86 D -5.18 D 0.949 6.494 31 0.999 0.985 D 1.072 D 0.976 D 0.722 0 5.9 0.991 1.057 1.000 1.000 16.329 Deleterious
1160 12 112450394 G C Pathogenic/Likely pathogenic PTPN11 . . . . . . . . . . 12 112450394 112450394 G C exonic PTPN11 . nonsynonymous SNV PTPN11:NM_002834:exon3:c.G214C:p.A72P,PTPN11:NM_080601:exon3:c.G214C:p.A72P 12q24.13 . rs121918453 0.04 D 0.91 P 0.579 P 0.000 D 1 D 0.85 L -3.95 D -4.31 D 0.957 5.867 27.3 0.998 0.992 D 0.787 D 0.823 D 0.722 0 5.01 0.917 1.044 1.000 1.000 14.802 Deleterious
1161 12 112450394 G T Pathogenic PTPN11 . . . . . . . . . . 12 112450394 112450394 G T exonic PTPN11 . nonsynonymous SNV PTPN11:NM_002834:exon3:c.G214T:p.A72S,PTPN11:NM_080601:exon3:c.G214T:p.A72S 12q24.13 . rs121918453 0.007 D 0.903 P 0.83 P 0.000 D 1 A 0.905 L -3.95 D -2.59 D 0.851 5.765 27.0 0.997 0.991 D 0.961 D 0.865 D 0.722 0 5.01 0.917 1.044 1.000 1.000 14.802 Deleterious
1162 12 112450395 C G Pathogenic PTPN11 . . . . . . . . . . 12 112450395 112450395 C G exonic PTPN11 . nonsynonymous SNV PTPN11:NM_002834:exon3:c.C215G:p.A72G,PTPN11:NM_080601:exon3:c.C215G:p.A72G 12q24.13 . rs121918454 0.048 D 0.988 D 0.924 D 0.000 D 1 A 1.52 L -4.0 D -3.45 D 0.88 6.090 28.2 0.998 0.987 D 1.037 D 0.896 D 0.722 0 5.01 0.871 0.931 1.000 1.000 14.802 Deleterious
1163 12 112450398 C T Pathogenic PTPN11 . . . . . . . . . . 12 112450398 112450398 C T exonic PTPN11 . nonsynonymous SNV PTPN11:NM_002834:exon3:c.C218T:p.T73I,PTPN11:NM_080601:exon3:c.C218T:p.T73I 12q24.13 . rs121918462 0.001 D 0.999 D 0.984 D 0.000 D 1 A 3.675 H -4.24 D -5.04 D 0.939 6.617 32 0.999 0.986 D 1.086 D 0.967 D 0.722 0 5.9 0.871 0.931 0.994 0.998 20.279 Deleterious
1164 12 112450407 A G Pathogenic PTPN11 . . . . . . . . . . 12 112450407 112450407 A G exonic PTPN11 . nonsynonymous SNV PTPN11:NM_002834:exon3:c.A227G:p.E76G,PTPN11:NM_080601:exon3:c.A227G:p.E76G 12q24.13 . rs121918465 0.002 D 0.99 D 0.734 P 0.000 D 1 D 3.575 H -4.31 D -6.04 D 0.909 6.621 32 0.999 0.991 D 1.091 D 0.949 D 0.722 0 5.9 1.062 1.193 0.998 0.994 16.329 Deleterious
1165 12 112450408 G C Pathogenic PTPN11 . . . . . . . . . . 12 112450408 112450408 G C exonic PTPN11 . nonsynonymous SNV PTPN11:NM_002834:exon3:c.G228C:p.E76D,PTPN11:NM_080601:exon3:c.G228C:p.E76D 12q24.13 . rs397507514 0.022 D 0.563 P 0.31 B 0.000 D 1.000 D 1.38 L -4.13 D -2.59 D 0.84 5.097 25.3 0.997 0.959 D 0.293 D 0.777 D 0.722 0 1.86 0.034 -0.193 0.996 0.987 8.533 Deleterious
1166 12 112450408 G T Pathogenic PTPN11 . . . . . . . . . . 12 112450408 112450408 G T exonic PTPN11 . nonsynonymous SNV PTPN11:NM_002834:exon3:c.G228T:p.E76D,PTPN11:NM_080601:exon3:c.G228T:p.E76D 12q24.13 . rs397507514 0.022 D 0.563 P 0.31 B 0.000 D 1.000 D 1.38 L -4.13 D -2.59 D 0.84 5.243 25.6 0.997 0.952 D 0.293 D 0.777 D 0.722 0 1.86 0.034 -0.193 0.996 0.987 8.533 Deleterious
1167 12 112450416 A G Pathogenic PTPN11 . . . . . . . . . . 12 112450416 112450416 A G exonic PTPN11 . nonsynonymous SNV PTPN11:NM_002834:exon3:c.A236G:p.Q79R,PTPN11:NM_080601:exon3:c.A236G:p.Q79R 12q24.13 . rs121918466 0.004 D 0.959 D 0.774 P 0.000 D 1 A 1.345 L -3.99 D -3.0 D 0.92 5.672 26.7 0.999 0.991 D 0.977 D 0.880 D 0.722 0 5.9 1.062 1.193 0.999 0.998 16.329 Deleterious
1168 12 112450497 A C Pathogenic PTPN11 . . . . . . . . . . 12 112450497 112450497 A C exonic PTPN11 . nonsynonymous SNV PTPN11:NM_002834:exon3:c.A317C:p.D106A,PTPN11:NM_080601:exon3:c.A317C:p.D106A 12q24.13 . rs397507517 0.075 T 0.978 D 0.651 P 0.000 D 1 D 2.63 M -4.0 D -6.73 D 0.903 6.143 28.4 0.995 0.996 D 1.012 D 0.909 D 0.722 0 6.05 1.062 1.199 1.000 1.000 16.593 Deleterious
1169 12 112450508 G A Pathogenic PTPN11 . . . . . . . . . . 12 112450508 112450508 G A exonic PTPN11 . nonsynonymous SNV PTPN11:NM_002834:exon3:c.G328A:p.E110K,PTPN11:NM_080601:exon3:c.G328A:p.E110K 12q24.13 . rs397507518 0.003 D 0.997 D 0.956 D 0.000 D 1 D 2.705 M 2.74 T -3.58 D 0.963 7.343 34 0.999 0.999 D 0.320 D 0.639 D 0.722 0 6.05 0.917 1.048 1.000 1.000 20.601 Deleterious
1170 12 112453279 G C Pathogenic PTPN11 . . . . . . . . . . 12 112453279 112453279 G C exonic PTPN11 . nonsynonymous SNV PTPN11:NM_002834:exon4:c.G417C:p.E139D,PTPN11:NM_080601:exon4:c.G417C:p.E139D 12q24.13 . rs397507520 0.009 D 0.992 D 0.949 D 0.000 D 1 D 1.5 L -2.55 D -2.42 N 0.877 5.878 27.4 0.999 0.961 D 0.440 D 0.709 D 0.732 0 4.55 -0.381 0.137 0.963 0.999 9.519 Deleterious
1171 12 112453279 G T Pathogenic PTPN11 . . . . . . . . . . 12 112453279 112453279 G T exonic PTPN11 . nonsynonymous SNV PTPN11:NM_002834:exon4:c.G417T:p.E139D,PTPN11:NM_080601:exon4:c.G417T:p.E139D 12q24.13 . rs397507520 0.009 D 0.992 D 0.949 D 0.000 D 1 D 1.5 L -2.55 D -2.42 N 0.877 6.052 28.0 0.999 0.956 D 0.440 D 0.709 D 0.732 0 4.55 -0.381 0.137 0.963 0.999 9.519 Deleterious
0 1 2228866 G T Pathogenic SKI . . . . . . . . . . 1 2228866 2228866 G T exonic SKI . nonsynonymous SNV SKI:NM_003036:exon1:c.G100T:p.G34C 1p36.33 . rs387907306 0.0 D 1.0 D 1.0 D 0.000 U 1.000 D 1.24 L -5.66 D -7.11 D 0.84 4.766 24.7 0.996 0.903 D 1.029 D 0.956 D 0.767 0 1.29 0.609 0.731 0.999 1.000 10.417 Deleterious
148 1 161323636 C T Pathogenic SDHC . . . . . . . . . . 1 161323636 161323636 C T exonic SDHC . stopgain SDHC:NM_001035511:exon2:c.C43T:p.R15X,SDHC:NM_001035512:exon2:c.C43T:p.R15X,SDHC:NM_001278172:exon2:c.C43T:p.R15X,SDHC:NM_003001:exon2:c.C43T:p.R15X 1q23.3 . rs201286421 . . . . . . 0.089 N 1 A . . . . . . . 10.731 36 0.998 0.854 D . . . . 0.732 0 4.6 0.871 0.931 0.999 0.989 11.902 Deleterious (FATHMM)
169 1 209625919 C T Pathogenic/Likely pathogenic LAMB3 . . . . . . . . . . 1 209625919 209625919 C T exonic LAMB3 . synonymous SNV LAMB3:NM_001017402:exon13:c.C1705A:p.R569R,LAMB3:NM_000228:exon14:c.C1705A:p.R569R,LAMB3:NM_001127641:exon14:c.C1705A:p.R569R 1q32.2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
167 1 201365630 G A Pathogenic/Likely pathogenic TNNT2 . . . . . . . . . . 1 201365630 201365630 G A exonic TNNT2 . stopgain TNNT2:NM_001001432:exon7:c.G229T:p.G77X,TNNT2:NM_001001430:exon8:c.G244T:p.G82X,TNNT2:NM_001001431:exon8:c.G244T:p.G82X,TNNT2:NM_001276347:exon8:c.G244T:p.G82X,TNNT2:NM_000364:exon9:c.G274T:p.G92X,TNNT2:NM_001276345:exon9:c.G274T:p.G92X,TNNT2:NM_001276346:exon9:c.G271T:p.G91X 1q32.1 . . . . . . . . 0.000 D 1 A . . . . . . . 12.034 38 0.994 0.995 D . . . . 0.706 0 4.68 0.871 0.014 0.997 0.855 17.549 Deleterious (FATHMM)
168 1 201365638 T A Pathogenic/Likely pathogenic TNNT2 . . . . . . . . . . 1 201365638 201365638 T A exonic TNNT2 . synonymous SNV TNNT2:NM_001001432:exon7:c.T221T:p.I74I,TNNT2:NM_001001430:exon8:c.T236T:p.I79I,TNNT2:NM_001001431:exon8:c.T236T:p.I79I,TNNT2:NM_001276347:exon8:c.T236T:p.I79I,TNNT2:NM_000364:exon9:c.T266T:p.I89I,TNNT2:NM_001276345:exon9:c.T266T:p.I89I,TNNT2:NM_001276346:exon9:c.T263T:p.I88I 1q32.1 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
165 1 201365297 G A Pathogenic/Likely pathogenic TNNT2 . . . . . . . . . . 1 201365297 201365297 G A exonic TNNT2 . nonsynonymous SNV TNNT2:NM_001001432:exon8:c.G260T:p.R87L,TNNT2:NM_001001430:exon9:c.G275T:p.R92L,TNNT2:NM_001001431:exon9:c.G275T:p.R92L,TNNT2:NM_001276347:exon9:c.G275T:p.R92L,TNNT2:NM_000364:exon10:c.G305T:p.R102L,TNNT2:NM_001276345:exon10:c.G305T:p.R102L 1q32.1 . . 0.001 D 1.0 D 0.998 D 0.000 D 1 D 1.57 L -5.46 D -5.63 D 0.955 7.836 35 0.999 0.957 D 1.125 D 0.965 D 0.626 0 5.02 0.871 0.014 1.000 0.991 18.347 Deleterious
166 1 201365298 C T Pathogenic/Likely pathogenic TNNT2 . . . . . . . . . . 1 201365298 201365298 C T exonic TNNT2 . synonymous SNV TNNT2:NM_001001432:exon8:c.C259A:p.R87R,TNNT2:NM_001001430:exon9:c.C274A:p.R92R,TNNT2:NM_001001431:exon9:c.C274A:p.R92R,TNNT2:NM_001276347:exon9:c.C274A:p.R92R,TNNT2:NM_000364:exon10:c.C304A:p.R102R,TNNT2:NM_001276345:exon10:c.C304A:p.R102R 1q32.1 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
163 1 201365291 G A Pathogenic/Likely pathogenic TNNT2 . . . . . . . . . . 1 201365291 201365291 G A exonic TNNT2 . nonsynonymous SNV TNNT2:NM_001001432:exon8:c.G266T:p.R89L,TNNT2:NM_001001430:exon9:c.G281T:p.R94L,TNNT2:NM_001001431:exon9:c.G281T:p.R94L,TNNT2:NM_001276347:exon9:c.G281T:p.R94L,TNNT2:NM_000364:exon10:c.G311T:p.R104L,TNNT2:NM_001276345:exon10:c.G311T:p.R104L 1q32.1 . rs397516457 0.001 D 1.0 D 1.0 D 0.000 D 1 D 3.225 M -5.46 D -6.52 D 0.988 8.173 35 0.999 0.981 D 1.063 D 0.980 D 0.626 0 5.02 0.871 0.014 1.000 0.998 18.347 Deleterious
164 1 201365292 C T Pathogenic/Likely pathogenic TNNT2 . . . . . . . . . . 1 201365292 201365292 C T exonic TNNT2 . nonsynonymous SNV TNNT2:NM_001001432:exon8:c.C265A:p.R89S,TNNT2:NM_001001430:exon9:c.C280A:p.R94S,TNNT2:NM_001001431:exon9:c.C280A:p.R94S,TNNT2:NM_001276347:exon9:c.C280A:p.R94S,TNNT2:NM_000364:exon10:c.C310A:p.R104S,TNNT2:NM_001276345:exon10:c.C310A:p.R104S 1q32.1 . . 0.001 D 1.0 D 1.0 D 0.000 D 1 D 3.225 M -5.43 D -5.59 D 0.992 7.298 34 0.998 0.947 D 1.063 D 0.980 D 0.626 0 5.02 0.917 0.953 1.000 0.998 18.347 Deleterious
161 1 201364336 C T Pathogenic/Likely pathogenic TNNT2 . . . . . . . . . . 1 201364336 201364336 C T exonic TNNT2 . synonymous SNV TNNT2:NM_001001432:exon9:c.C406A:p.R136R,TNNT2:NM_001001430:exon10:c.C421A:p.R141R,TNNT2:NM_001001431:exon10:c.C421A:p.R141R,TNNT2:NM_001276346:exon10:c.C331A:p.R111R,TNNT2:NM_001276347:exon10:c.C421A:p.R141R,TNNT2:NM_000364:exon11:c.C451A:p.R151R,TNNT2:NM_001276345:exon11:c.C451A:p.R151R 1q32.1 . rs74315379 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
162 1 201365242 T G Pathogenic/Likely pathogenic TNNT2 . . . . . . . . . . 1 201365242 201365242 T G exonic TNNT2 . synonymous SNV TNNT2:NM_001001432:exon8:c.T315C:p.F105F,TNNT2:NM_001001430:exon9:c.T330C:p.F110F,TNNT2:NM_001001431:exon9:c.T330C:p.F110F,TNNT2:NM_001276347:exon9:c.T330C:p.F110F,TNNT2:NM_000364:exon10:c.T360C:p.F120F,TNNT2:NM_001276345:exon10:c.T360C:p.F120F 1q32.1 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
159 1 197435170 G A Pathogenic CRB1 . . . . . . . . . . 1 197435170 197435170 G A exonic CRB1 . nonsynonymous SNV CRB1:NM_001193640:exon7:c.G2971A:p.G991R,CRB1:NM_201253:exon9:c.G3307A:p.G1103R,CRB1:NM_001257965:exon12:c.G3235A:p.G1079R 1q31.3 . rs62636275 0.002 D 0.999 D 0.929 D . . 1.000 A 1.965 M -0.44 T -5.99 D 0.77 4.553 24.4 0.992 0.052 N -0.201 T 0.372 T 0.487 0 -3.14 -0.011 0.135 0.929 0.993 13.146 Tolerated
160 1 201359217 G A Pathogenic/Likely pathogenic TNNT2 . . . . . . . . . . 1 201359217 201359217 G A exonic TNNT2 . nonsynonymous SNV TNNT2:NM_001001432:exon14:c.G842T:p.W281L,TNNT2:NM_001001431:exon15:c.G851T:p.W284L,TNNT2:NM_001276346:exon15:c.G761T:p.W254L,TNNT2:NM_000364:exon16:c.G881T:p.W294L,TNNT2:NM_001001430:exon16:c.G860T:p.W287L,TNNT2:NM_001276347:exon16:c.G860T:p.W287L,TNNT2:NM_001276345:exon17:c.G890T:p.W297L 1q32.1 . . 0.027 D 0.058 B 0.038 B 0.031 N 1.000 D 1.365 L 2.94 T -5.14 D 0.631 6.941 33 0.969 0.983 D -1.089 T 0.034 T 0.718 0 3.98 0.871 0.888 0.997 0.997 13.363 Tolerated
157 1 197133348 T C Pathogenic ASPM . . . . . . . . . . 1 197133348 197133348 T C splicing ASPM NM_001206846:exon6:c.2419+2A>G,NM_018136:exon6:c.2419+2A>G . . 1q31.3 . . . . . . . . . . 1 D . . . . . . . 4.990 25.1 0.994 0.992 D . . . . 0.106 0 5.27 1.062 1.199 0.996 0.993 15.493 Deleterious (FATHMM)
158 1 197143114 C T Pathogenic/Likely pathogenic ASPM . . . . . . . . . . 1 197143114 197143114 C T exonic ASPM . nonsynonymous SNV ASPM:NM_001206846:exon3:c.C1138A:p.Q380K,ASPM:NM_018136:exon3:c.C1138A:p.Q380K 1q31.3 . rs587783215 0.849 T 0.004 B 0.002 B 0.224 N 1 N 1.295 L 1.75 T -0.4 N 0.099 0.546 7.775 0.873 0.038 N -1.014 T 0.081 T 0.651 0 0.697 -0.714 0.038 0.038 0.441 4.479 Tolerated
155 1 197091032 C T Pathogenic ASPM . . . . . . . . . . 1 197091032 197091032 C T exonic ASPM . synonymous SNV ASPM:NM_001206846:exon22:c.C4699A:p.R1567R,ASPM:NM_018136:exon23:c.C9454A:p.R3152R 1q31.3 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
156 1 197093168 C T Pathogenic ASPM . . . . . . . . . . 1 197093168 197093168 C T exonic ASPM . nonsynonymous SNV ASPM:NM_001206846:exon20:c.C4423A:p.Q1475K,ASPM:NM_018136:exon21:c.C9178A:p.Q3060K 1q31.3 . . 0.019 D 0.997 D 0.976 D 0.009 N 0.990 D 3.2 M -0.83 T -1.84 N 0.708 3.946 23.6 0.994 0.954 D 0.999 D 0.942 D 0.732 0 3.22 0.917 0.998 0.878 0.996 6.296 Deleterious
153 1 197090295 C T Pathogenic ASPM . . . . . . . . . . 1 197090295 197090295 C T exonic ASPM . synonymous SNV ASPM:NM_001206846:exon23:c.C4975A:p.R1659R,ASPM:NM_018136:exon24:c.C9730A:p.R3244R 1q31.3 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
154 1 197090328 C T Pathogenic ASPM . . . . . . . . . . 1 197090328 197090328 C T exonic ASPM . synonymous SNV ASPM:NM_001206846:exon23:c.C4942A:p.R1648R,ASPM:NM_018136:exon24:c.C9697A:p.R3233R 1q31.3 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
151 1 179561327 G A Pathogenic NPHS2 . . . . . . . . . . 1 179561327 179561327 G A exonic NPHS2 . nonsynonymous SNV NPHS2:NM_001297575:exon3:c.G413T:p.R138L,NPHS2:NM_014625:exon3:c.G413T:p.R138L 1q25.2 . . 0.0 D 1.0 D 0.999 D 0.000 D 1 D 2.675 M -3.85 D -6.72 D 0.948 7.700 35 0.996 0.976 D 1.057 D 0.986 D 0.487 0 5.82 0.871 0.935 0.999 0.998 18.678 Deleterious
152 1 197090004 C T Pathogenic ASPM . . . . . . . . . . 1 197090004 197090004 C T exonic ASPM . synonymous SNV ASPM:NM_001206846:exon24:c.C5155A:p.R1719R,ASPM:NM_018136:exon25:c.C9910A:p.R3304R 1q31.3 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
149 1 161356832 C T Pathogenic SDHC . . . . . . . . . . 1 161356832 161356832 C T exonic SDHC . stopgain SDHC:NM_001035513:exon3:c.C238T:p.R80X,SDHC:NM_001035512:exon4:c.C295T:p.R99X,SDHC:NM_003001:exon5:c.C397T:p.R133X 1q23.3 . rs764575966 . . . . . . 0.000 D 1 D . . . . . . . 14.753 47 0.998 0.748 D . . . . 0.722 0 5.24 0.868 0.841 1.000 0.996 16.695 Deleterious (FATHMM)
150 1 173831632 T C Pathogenic DARS2 . . . . . . . . . . 1 173831632 173831632 T C splicing DARS2 NM_018122:exon5:c.492+2T>C . . 1q25.1 0.0002 rs142433332 . . . . . . . . 1 A . . . . . . . 4.772 24.7 0.992 0.975 D . . . . 0.106 0 5.77 0.991 1.061 0.823 0.839 15.376 Deleterious (FATHMM)
1 1 2228866 G A Pathogenic SKI . . . . . . . . . . 1 2228866 2228866 G A exonic SKI . nonsynonymous SNV SKI:NM_003036:exon1:c.G100A:p.G34S 1p36.33 . rs387907306 0.0 D 1.0 D 0.997 D 0.000 U 1.000 D 1.24 L -5.62 D -4.71 D 0.831 3.114 22.5 0.994 0.863 D 1.029 D 0.956 D 0.767 0 1.29 0.609 0.731 0.999 1.000 10.417 Deleterious
2 1 9726972 G A Pathogenic PIK3CD . . . . . . . . . . 1 9726972 9726972 G A exonic PIK3CD . nonsynonymous SNV PIK3CD:NM_005026:exon24:c.G3061A:p.E1021K 1p36.22 . rs397518423 0.002 D 1.0 D 0.984 D 0.000 D 1.000 D 1.69 L -1.49 T -3.51 D 0.701 6.502 31 0.994 0.974 D 0.233 D 0.593 D 0.672 0 3.72 0.917 0.949 0.985 0.993 14.041 Deleterious
3 1 11992606 T C Pathogenic MFN2 . . . . . . . . . . 1 11992606 11992606 T C exonic MFN2 . nonsynonymous SNV MFN2:NM_001127660:exon3:c.T227C:p.L76P,MFN2:NM_014874:exon4:c.T227C:p.L76P 1p36.22 . rs28940293 0.257 T 0.74 P 0.243 B 0.009 N 1 D 1.65 L -3.61 D -1.66 N 0.868 2.449 19.14 0.993 0.886 D 1.040 D 0.925 D 0.707 0 5.39 0.991 1.061 0.996 1.000 14.586 Deleterious
4 1 11992659 C T Pathogenic MFN2 . . . . . . . . . . 1 11992659 11992659 C T exonic MFN2 . nonsynonymous SNV MFN2:NM_001127660:exon3:c.C280T:p.R94W,MFN2:NM_014874:exon4:c.C280T:p.R94W 1p36.22 . rs119103263 0.0 D 1.0 D 0.999 D 0.000 D 1 A 2.54 M -3.78 D -7.15 D 0.96 7.337 34 0.999 0.968 D 1.127 D 0.958 D 0.707 0 3.57 -0.639 -0.162 0.968 0.987 13.321 Deleterious
5 1 11992660 G A Pathogenic MFN2 . . . . . . . . . . 1 11992660 11992660 G A exonic MFN2 . nonsynonymous SNV MFN2:NM_001127660:exon3:c.G281A:p.R94Q,MFN2:NM_014874:exon4:c.G281A:p.R94Q 1p36.22 . rs28940291 0.0 D 1.0 D 0.99 D 0.000 D 1 A 2.54 M -3.75 D -3.39 D 0.873 6.487 30 1.000 0.996 D 1.096 D 0.962 D 0.707 0 5.4 0.917 1.048 0.983 0.988 18.154 Deleterious
6 1 11992689 C T Pathogenic MFN2 . . . . . . . . . . 1 11992689 11992689 C T exonic MFN2 . nonsynonymous SNV MFN2:NM_001127660:exon3:c.C310T:p.R104W,MFN2:NM_014874:exon4:c.C310T:p.R104W 1p36.22 . rs119103268 0.0 D 1.0 D 1.0 D 0.000 D 1 A 2.73 M -4.18 D -7.36 D 0.966 7.210 34 0.999 0.949 D 1.111 D 0.930 D 0.707 0 2.2 -0.058 0.935 0.960 0.989 12.635 Deleterious
7 1 11996158 C T Pathogenic MFN2 . . . . . . . . . . 1 11996158 11996158 C T exonic MFN2 . nonsynonymous SNV MFN2:NM_001127660:exon4:c.C314T:p.T105M,MFN2:NM_014874:exon5:c.C314T:p.T105M 1p36.22 . rs863224069 0.0 D 1.0 D 1.0 D 0.000 D 1 D 2.695 M -4.13 D -5.53 D 0.964 6.907 33 0.999 0.948 D 1.029 D 0.934 D 0.707 0 4.7 0.871 0.935 0.994 0.997 15.114 Deleterious
8 1 11997316 A G Pathogenic MFN2 . . . . . . . . . . 1 11997316 11997316 A G exonic MFN2 . nonsynonymous SNV MFN2:NM_001127660:exon5:c.A494G:p.H165R,MFN2:NM_014874:exon6:c.A494G:p.H165R 1p36.22 . rs863224970 0.001 D 1.0 D 0.991 D 0.000 D 1 D 1.735 L -4.07 D -5.63 D 0.949 5.419 26.0 0.996 0.968 D 0.950 D 0.906 D 0.707 0 5.3 1.062 1.187 1.000 0.954 14.462 Deleterious
9 1 12001423 G A Pathogenic MFN2 . . . . . . . . . . 1 12001423 12001423 G A exonic MFN2 . nonsynonymous SNV MFN2:NM_001127660:exon8:c.G839A:p.R280H,MFN2:NM_014874:exon9:c.G839A:p.R280H 1p36.22 . rs28940294 0.0 D 1.0 D 0.937 D 0.000 D 1 A 2.71 M -3.71 D -4.74 D 0.906 6.957 33 1.000 0.983 D 1.050 D 0.926 D 0.737 0 5.23 0.917 1.045 0.998 0.970 18.152 Deleterious
10 1 12002033 C T Pathogenic MFN2 . . . . . . . . . . 1 12002033 12002033 C T exonic MFN2 . nonsynonymous SNV MFN2:NM_001127660:exon10:c.C1090T:p.R364W,MFN2:NM_014874:exon11:c.C1090T:p.R364W 1p36.22 . rs119103265 0.0 D 1.0 D 0.976 D 0.000 D 1 A 2.625 M -4.47 D -6.35 D 0.921 7.424 34 0.999 0.890 D 1.133 D 0.932 D 0.707 0 4.7 0.871 0.935 1.000 0.997 7.566 Deleterious
11 1 12011510 G C Pathogenic/Likely pathogenic MFN2 . . . . . . . . . . 1 12011510 12011510 G C exonic MFN2 . nonsynonymous SNV MFN2:NM_001127660:exon18:c.G2219C:p.W740S,MFN2:NM_014874:exon19:c.G2219C:p.W740S 1p36.22 . rs28940292 0.11 T 0.346 B 0.326 B 0.000 D 1 A 1.5 L -3.69 D -4.55 D 0.979 5.777 27.0 0.981 0.985 D 0.576 D 0.819 D 0.707 0 5.3 0.917 0.998 0.999 0.995 18.112 Deleterious
12 1 17022648 G A Pathogenic SDHB . . . . . . . . . . 1 17022648 17022648 G A exonic SDHB . nonsynonymous SNV SDHB:NM_003000:exon7:c.G725T:p.R242L 1p36.13 . . 0.0 D 1.0 D 1.0 D 0.000 D 1 D 2.68 M -5.03 D -5.52 D 0.955 8.400 35 0.999 0.996 D 1.102 D 0.971 D 0.707 0 5.62 0.871 0.935 0.999 1.000 18.588 Deleterious
13 1 17022684 G A Pathogenic SDHB . . . . . . . . . . 1 17022684 17022684 G A exonic SDHB . nonsynonymous SNV SDHB:NM_003000:exon7:c.G689T:p.R230L 1p36.13 . rs587782604 0.0 D 1.0 D 0.996 D 0.000 D 1 D 3.735 H -4.23 D -5.86 D 0.985 8.195 35 0.999 0.995 D 1.092 D 0.967 D 0.707 0 5.51 0.871 0.935 0.999 1.000 18.337 Deleterious
14 1 17023975 C T Pathogenic SDHB . . . . . . . . . . 1 17023975 17023975 C T exonic SDHB . nonsynonymous SNV SDHB:NM_003000:exon6:c.C640A:p.Q214K 1p36.13 . . 0.001 D 0.999 D 0.993 D 0.000 D 1 D 2.075 M -5.04 D -3.46 D 0.927 6.447 29.8 0.995 0.997 D 1.112 D 0.964 D 0.732 0 5.49 0.917 0.902 0.995 0.981 18.301 Deleterious
15 1 17024076 A G Pathogenic/Likely pathogenic SDHB . . . . . . . . . . 1 17024076 17024076 A G splicing SDHB NM_003000:exon6:c.541-2T>C . . 1p36.13 . . . . . . . . . . 1 D . . . . . . . 5.136 25.4 0.995 0.992 D . . . . 0.322 0 5.19 0.673 1.061 0.932 0.954 14.565 Deleterious (FATHMM)
16 1 17028599 G A Pathogenic SDHB . . . . . . . . . . 1 17028599 17028599 G A splicing SDHB NM_003000:exon4:c.423+1C>T . . 1p36.13 . . . . . . . . . . 1 D . . . . . . . 6.622 32 0.995 0.989 D . . . . 0.295 0 6.17 0.871 0.935 0.975 0.997 19.443 Deleterious (FATHMM)
17 1 17028605 G T Pathogenic/Likely pathogenic SDHB . . . . . . . . . . 1 17028605 17028605 G T exonic SDHB . nonsynonymous SNV SDHB:NM_003000:exon4:c.G418A:p.V140I 1p36.13 . . 0.058 T 0.647 P 0.415 B 0.000 D 1 D 1.53 L -5.11 D -0.76 N 0.536 3.979 23.6 0.998 0.970 D 0.951 D 0.915 D 0.707 0 5.25 0.871 0.935 0.990 0.996 14.768 Deleterious
18 1 17028737 G C Pathogenic/Likely pathogenic SDHB . . . . . . . . . . 1 17028737 17028737 G C splicing SDHB NM_003000:exon4:c.287-1C>G . . 1p36.13 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .
19 1 17033078 C T Pathogenic SDHB . . . . . . . . . . 1 17033078 17033078 C T exonic SDHB . synonymous SNV SDHB:NM_003000:exon3:c.C268A:p.R90R 1p36.13 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
20 1 17044824 G A Pathogenic SDHB . . . . . . . . . . 1 17044824 17044824 G A exonic SDHB . nonsynonymous SNV SDHB:NM_003000:exon2:c.G137T:p.R46L 1p36.13 . . 0.0 D 1.0 D 1.0 D 0.000 D 1 D 4.57 H -6.26 D -5.51 D 0.962 8.108 35 0.999 0.982 D 0.949 D 0.993 D 0.706 0 5.65 0.871 0.935 0.999 0.999 18.456 Deleterious
21 1 17044825 C T Pathogenic SDHB . . . . . . . . . . 1 17044825 17044825 C T exonic SDHB . synonymous SNV SDHB:NM_003000:exon2:c.C136A:p.R46R 1p36.13 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
22 1 17053947 G T Pathogenic SDHB . . . . . . . . . . 1 17053947 17053947 G T splicing SDHB NM_003000:exon1:c.72+1C>A . . 1p36.13 . . . . . . . . . . 1 D . . . . . . . 5.516 26.3 0.994 0.692 D . . . . 0.090 0 5.13 0.871 0.935 0.860 0.375 14.092 Deleterious (FATHMM)
23 1 21563158 G A Pathogenic/Likely pathogenic ALPL . . . . . . . . . . 1 21563158 21563158 G A exonic ALPL . nonsynonymous SNV ALPL:NM_001177520:exon3:c.G115A:p.A39T,ALPL:NM_001127501:exon4:c.G181A:p.A61T,ALPL:NM_000478:exon5:c.G346A:p.A116T 1p36.12 . rs121918013 0.001 D 1.0 D 1.0 D 0.000 D 1 A 3.705 H -5.18 D -3.83 D 0.974 7.107 34 0.999 0.997 D 1.059 D 0.978 D 0.706 0 4.49 0.917 0.953 0.997 0.929 15.895 Deleterious
24 1 21563219 G A Pathogenic/Likely pathogenic ALPL . . . . . . . . . . 1 21563219 21563219 G A exonic ALPL . nonsynonymous SNV ALPL:NM_001177520:exon3:c.G176A:p.R59H,ALPL:NM_001127501:exon4:c.G242A:p.R81H,ALPL:NM_000478:exon5:c.G407A:p.R136H 1p36.12 7.7e-05 rs121918011 0.515 T 1.0 D 0.994 D 0.000 D 1.000 A 1.87 L -3.91 D -0.19 N 0.827 4.796 24.8 0.978 0.969 D 0.805 D 0.885 D 0.706 0 4.32 0.917 0.953 0.015 0.135 15.528 Deleterious
25 1 21564139 G A Pathogenic ALPL . . . . . . . . . . 1 21564139 21564139 G A exonic ALPL . nonsynonymous SNV ALPL:NM_001177520:exon4:c.G340A:p.E114K,ALPL:NM_001127501:exon5:c.G406A:p.E136K,ALPL:NM_000478:exon6:c.G571A:p.E191K 1p36.12 0.0008 rs121918007 0.164 T 0.973 D 0.548 P 0.000 D 1.000 A 1.395 L -4.11 D -2.16 N 0.938 6.320 29.2 0.999 0.979 D 0.894 D 0.843 D 0.718 0 5.17 0.917 0.953 1.000 0.997 17.215 Deleterious
26 1 21575868 A T Pathogenic ALPL . . . . . . . . . . 1 21575868 21575868 A T exonic ALPL . nonsynonymous SNV ALPL:NM_001177520:exon8:c.A902T:p.D301V,ALPL:NM_001127501:exon9:c.A968T:p.D323V,ALPL:NM_000478:exon10:c.A1133T:p.D378V 1p36.12 . rs121918008 0.0 D 1.0 D 1.0 D 0.000 D 1 A 4.545 H -8.29 D -8.51 D 0.975 5.975 27.7 0.995 0.991 D 0.913 D 0.998 D 0.635 0 4.91 1.062 1.199 0.992 0.954 12.512 Deleterious
27 1 21576582 A G Pathogenic/Likely pathogenic ALPL . . . . . . . . . . 1 21576582 21576582 A G exonic ALPL . nonsynonymous SNV ALPL:NM_001177520:exon9:c.A1019G:p.N340S,ALPL:NM_001127501:exon10:c.A1085G:p.N362S,ALPL:NM_000478:exon11:c.A1250G:p.N417S 1p36.12 7.7e-05 rs121918014 0.018 D 1.0 D 1.0 D 0.000 D 1.000 A 3.14 M -4.25 D -4.68 D 0.168 5.625 26.6 0.999 0.995 D 1.116 D 0.951 D 0.635 0 5.13 1.062 1.194 0.993 0.993 12.944 Deleterious
28 1 23820545 G T Pathogenic HMGCL . . . . . . . . . . 1 23820545 23820545 G T exonic HMGCL . nonsynonymous SNV HMGCL:NM_000191:exon2:c.G109A:p.E37K,HMGCL:NM_001166059:exon2:c.G109A:p.E37K 1p36.11 . . 0.002 D 0.99 D 0.844 P 0.000 D 1 D 0 N -5.18 D -3.82 D 0.992 5.859 27.3 0.999 0.982 D -0.958 T 0.138 T 0.732 0 5.27 0.871 0.934 0.998 1.000 17.893 Tolerated
29 1 25809753 G A Pathogenic SELENON . . . . . . . . . . 1 25809753 25809753 G A exonic SEPN1 . unknown UNKNOWN 1p36.11 0.0005 rs121908188 0.01 D 1.0 D 0.999 D 0.000 D 1 A 2.215 M -3.89 D -3.39 D 0.981 7.207 34 0.999 0.991 D 1.036 D 0.915 D 0.707 0 4.84 0.917 1.048 0.998 1.000 18.132 Deleterious
30 1 26795056 C A Pathogenic PIGV . . . . . . . . . . 1 26795056 26795056 C A exonic PIGV . nonsynonymous SNV PIGV:NM_001202554:exon3:c.C1022A:p.A341E,PIGV:NM_017837:exon3:c.C1022A:p.A341E 1p36.11 0.0002 rs139073416 0.003 D 0.997 D 0.954 D 0.000 D 1 D 2.79 M -1.99 D -2.24 N 0.935 5.794 27.1 0.990 0.993 D 0.697 D 0.758 D 0.737 0 4.13 0.868 0.890 0.991 0.998 15.599 Deleterious
31 1 40089495 C T Pathogenic PPT1 . . . . . . . . . . 1 40089495 40089495 C T exonic PPT1 . synonymous SNV PPT1:NM_001142604:exon2:c.C142A:p.R48R,PPT1:NM_000310:exon5:c.C451A:p.R151R 1p34.2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
32 1 40097210 T A Pathogenic/Likely pathogenic PPT1 . . . . . . . . . . 1 40097210 40097210 T A exonic PPT1 . synonymous SNV PPT1:NM_000310:exon1:c.T29T:p.L10L,PPT1:NM_001142604:exon1:c.T29T:p.L10L 1p34.2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
33 1 42757782 G T Pathogenic P3H1 . . . . . . . . . . 1 42757782 42757782 G T splicing P3H1 NM_022356:exon5:c.1080+1C>A,NM_001146289:exon5:c.1080+1C>A,NM_001243246:exon5:c.1080+1C>A . . 1p34.2 . . . . . . . . . . 1 D . . . . . . . 5.328 25.8 0.995 0.996 D . . . . 0.359 0 5.84 0.871 0.935 0.890 0.933 17.643 Deleterious (FATHMM)
34 1 42929242 G A Pathogenic SLC2A1 . . . . . . . . . . 1 42929242 42929242 G A exonic SLC2A1 . nonsynonymous SNV SLC2A1:NM_006516:exon7:c.G940T:p.G314C 1p34.2 . . 0.0 D 1.0 D 1.0 D 0.000 D 1 D 4.365 H -1.26 T -8.78 D 0.954 8.012 35 0.998 0.974 D 0.880 D 0.783 D 0.707 0 5.38 0.871 0.935 0.940 0.986 16.645 Deleterious
35 1 42929298 C T Pathogenic SLC2A1 . . . . . . . . . . 1 42929298 42929298 C T exonic SLC2A1 . nonsynonymous SNV SLC2A1:NM_006516:exon7:c.C884A:p.T295K 1p34.2 . . 0.001 D 0.999 D 0.99 D 0.000 D 1 D 3.665 H -1.5 D -5.83 D 0.947 7.488 34 0.995 0.986 D 0.787 D 0.767 D 0.707 0 5.24 0.917 1.048 0.997 0.989 16.345 Deleterious
36 1 42929613 C T Pathogenic SLC2A1 . . . . . . . . . . 1 42929613 42929613 C T exonic SLC2A1 . nonsynonymous SNV SLC2A1:NM_006516:exon6:c.C847A:p.Q283K 1p34.2 . . 0.001 D 0.998 D 0.957 D 0.000 D 1 D 4.8 H -1.44 T -3.87 D 0.896 5.803 27.1 0.996 0.983 D 0.987 D 0.827 D 0.707 0 5.14 0.917 0.974 1.000 1.000 16.110 Deleterious
37 1 42929637 G A Pathogenic SLC2A1 . . . . . . . . . . 1 42929637 42929637 G A exonic SLC2A1 . nonsynonymous SNV SLC2A1:NM_006516:exon6:c.G823T:p.A275S 1p34.2 . . 0.48 T 0.256 B 0.279 B 0.000 D 1 D 1.035 L -0.9 T -1.84 N 0.554 5.304 25.8 0.992 0.975 D -0.664 T 0.302 T 0.707 0 5.14 0.871 0.870 0.994 0.996 16.110 Tolerated
38 1 42929712 C T Pathogenic SLC2A1 . . . . . . . . . . 1 42929712 42929712 C T exonic SLC2A1 . nonsynonymous SNV SLC2A1:NM_006516:exon6:c.C748A:p.Q250K 1p34.2 . . 1.0 T 0.001 B 0.01 B 0.000 D 1.000 D -0.415 N -0.74 T 0.77 N 0.167 0.543 7.750 0.851 0.894 D -0.857 T 0.156 T 0.707 0 5.14 0.917 0.974 1.000 0.943 16.110 Tolerated
39 1 42929736 C T Pathogenic SLC2A1 . . . . . . . . . . 1 42929736 42929736 C T exonic SLC2A1 . nonsynonymous SNV SLC2A1:NM_006516:exon6:c.C724A:p.Q242K 1p34.2 . . 0.091 T 0.129 B 0.063 B 0.000 N 1.000 D 1.74 L -0.84 T -1.77 N 0.247 3.914 23.5 0.992 0.942 D -0.590 T 0.308 T 0.707 0 4.2 0.917 0.974 0.998 1.000 12.527 Tolerated
40 1 42930765 G A Pathogenic SLC2A1 . . . . . . . . . . 1 42930765 42930765 G A exonic SLC2A1 . nonsynonymous SNV SLC2A1:NM_006516:exon4:c.G377T:p.R126L 1p34.2 . rs80359816 0.0 D 1.0 D 0.999 D 0.000 D 1 D 4.805 H -2.63 D -6.51 D 0.997 7.972 35 0.999 0.979 D 1.097 D 0.930 D 0.707 0 5.51 0.871 0.935 1.000 1.000 16.915 Deleterious
41 1 42930766 C T Pathogenic SLC2A1 . . . . . . . . . . 1 42930766 42930766 C T exonic SLC2A1 . nonsynonymous SNV SLC2A1:NM_006516:exon4:c.C376A:p.R126S 1p34.2 . . 0.02 D 1.0 D 1.0 D 0.000 D 1 D 4.805 H -2.63 D -5.58 D 0.99 7.012 33 0.998 0.963 D 1.097 D 0.930 D 0.707 0 5.51 0.917 1.048 1.000 1.000 16.915 Deleterious
42 1 45331220 G T Pathogenic MUTYH . . . . . . . . . . 1 45331220 45331220 G T exonic MUTYH . nonsynonymous SNV MUTYH:NM_001048171:exon14:c.G1396A:p.E466K,MUTYH:NM_001048172:exon14:c.G1357A:p.E453K,MUTYH:NM_001048173:exon14:c.G1354A:p.E452K,MUTYH:NM_001048174:exon14:c.G1354A:p.E452K,MUTYH:NM_001128425:exon14:c.G1438A:p.E480K,MUTYH:NM_001293190:exon14:c.G1399A:p.E467K,MUTYH:NM_001293191:exon14:c.G1387A:p.E463K,MUTYH:NM_001293192:exon14:c.G1078A:p.E360K,MUTYH:NM_001293196:exon14:c.G1078A:p.E360K,MUTYH:NM_012222:exon14:c.G1429A:p.E477K,MUTYH:NM_001293195:exon15:c.G1354A:p.E452K 1p34.1 . . 0.119 T 0.981 D 0.854 P 0.000 D 1 D 2.34 M -2.82 D -1.8 N 0.568 4.994 25.1 0.998 0.995 D 0.743 D 0.817 D 0.707 0 5.16 0.871 0.932 0.408 0.514 18.657 Deleterious
43 1 45331529 C T Pathogenic MUTYH . . . . . . . . . . 1 45331529 45331529 C T exonic MUTYH . nonsynonymous SNV MUTYH:NM_001048171:exon13:c.C1172A:p.P391Q,MUTYH:NM_001048172:exon13:c.C1133A:p.P378Q,MUTYH:NM_001048173:exon13:c.C1130A:p.P377Q,MUTYH:NM_001048174:exon13:c.C1130A:p.P377Q,MUTYH:NM_001128425:exon13:c.C1214A:p.P405Q,MUTYH:NM_001293190:exon13:c.C1175A:p.P392Q,MUTYH:NM_001293191:exon13:c.C1163A:p.P388Q,MUTYH:NM_001293192:exon13:c.C854A:p.P285Q,MUTYH:NM_001293196:exon13:c.C854A:p.P285Q,MUTYH:NM_012222:exon13:c.C1205A:p.P402Q,MUTYH:NM_001293195:exon14:c.C1130A:p.P377Q 1p34.1 . . 0.002 D 1.0 D 1.0 D 0.000 D 1 D 3.75 H -5.24 D -7.33 D 0.937 5.834 27.2 0.993 0.998 D 0.472 D 0.602 D 0.672 0 4.64 0.917 1.048 0.741 0.998 14.350 Deleterious
44 1 45331556 G A Pathogenic MUTYH . . . . . . . . . . 1 45331556 45331556 G A exonic MUTYH . nonsynonymous SNV MUTYH:NM_001048171:exon13:c.G1145T:p.G382V,MUTYH:NM_001048172:exon13:c.G1106T:p.G369V,MUTYH:NM_001048173:exon13:c.G1103T:p.G368V,MUTYH:NM_001048174:exon13:c.G1103T:p.G368V,MUTYH:NM_001128425:exon13:c.G1187T:p.G396V,MUTYH:NM_001293190:exon13:c.G1148T:p.G383V,MUTYH:NM_001293191:exon13:c.G1136T:p.G379V,MUTYH:NM_001293192:exon13:c.G827T:p.G276V,MUTYH:NM_001293196:exon13:c.G827T:p.G276V,MUTYH:NM_012222:exon13:c.G1178T:p.G393V,MUTYH:NM_001293195:exon14:c.G1103T:p.G368V 1p34.1 . . 0.0 D 1.0 D 0.999 D 0.000 D 1 D 3.745 H -3.81 D -6.07 D 0.954 6.388 29.5 0.998 0.998 D 0.496 D 0.636 D 0.672 0 5.4 0.871 0.935 0.965 0.980 19.186 Deleterious
45 1 45331558 A G Pathogenic/Likely pathogenic MUTYH . . . . . . . . . . 1 45331558 45331558 A G splicing MUTYH NM_001048173:exon13:c.1103-2T>C,NM_001048172:exon13:c.1106-2T>C,NM_001048171:exon13:c.1145-2T>C,NM_012222:exon13:c.1178-2T>C,NM_001293190:exon13:c.1148-2T>C,NM_001293196:exon13:c.827-2T>C,NM_001293195:exon14:c.1103-2T>C,NM_001293192:exon13:c.827-2T>C,NM_001293191:exon13:c.1136-2T>C,NM_001048174:exon13:c.1103-2T>C,NM_001128425:exon13:c.1187-2T>C . . 1p34.1 . . . . . . . . . . 1 D . . . . . . . 3.407 23.0 0.925 0.997 D . . . . 0.116 0 4.26 0.991 1.061 0.945 0.953 11.686 Deleterious (FATHMM)
46 1 45331835 C T Pathogenic MUTYH . . . . . . . . . . 1 45331835 45331835 C T exonic MUTYH . nonsynonymous SNV MUTYH:NM_001048171:exon12:c.C970A:p.Q324K,MUTYH:NM_001048172:exon12:c.C931A:p.Q311K,MUTYH:NM_001048173:exon12:c.C928A:p.Q310K,MUTYH:NM_001048174:exon12:c.C928A:p.Q310K,MUTYH:NM_001128425:exon12:c.C1012A:p.Q338K,MUTYH:NM_001293190:exon12:c.C973A:p.Q325K,MUTYH:NM_001293191:exon12:c.C961A:p.Q321K,MUTYH:NM_001293192:exon12:c.C652A:p.Q218K,MUTYH:NM_001293196:exon12:c.C652A:p.Q218K,MUTYH:NM_012222:exon12:c.C1003A:p.Q335K,MUTYH:NM_001293195:exon13:c.C928A:p.Q310K 1p34.1 . . 0.928 T 0.029 B 0.029 B 0.038 N 1.000 N 2.125 M 3.34 T -0.48 N 0.178 -0.486 0.238 0.622 0.180 N -0.958 T 0.043 T 0.732 0 4.73 0.917 1.048 0.105 0.520 3.561 Tolerated
47 1 45332163 A C Pathogenic MUTYH . . . . . . . . . . 1 45332163 45332163 A C intronic MUTYH . . . 1p34.1 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . probably Tolerated (Intron)
48 1 45332215 C T Pathogenic MUTYH . . . . . . . . . . 1 45332215 45332215 C T exonic MUTYH . nonsynonymous SNV MUTYH:NM_001048171:exon10:c.C842A:p.P281Q,MUTYH:NM_001048172:exon10:c.C803A:p.P268Q,MUTYH:NM_001048173:exon10:c.C800A:p.P267Q,MUTYH:NM_001048174:exon10:c.C800A:p.P267Q,MUTYH:NM_001128425:exon10:c.C884A:p.P295Q,MUTYH:NM_001293190:exon10:c.C845A:p.P282Q,MUTYH:NM_001293191:exon10:c.C833A:p.P278Q,MUTYH:NM_001293192:exon10:c.C524A:p.P175Q,MUTYH:NM_001293196:exon10:c.C524A:p.P175Q,MUTYH:NM_012222:exon10:c.C875A:p.P292Q,MUTYH:NM_001293195:exon11:c.C800A:p.P267Q 1p34.1 . . 0.001 D 1.0 D 0.995 D 0.000 D 1 D 4.435 H -4.21 D -7.41 D 0.871 5.541 26.4 0.993 0.995 D 1.029 D 0.982 D 0.732 0 5.51 0.917 0.953 0.502 0.934 19.419 Deleterious
49 1 45332242 G A Pathogenic/Likely pathogenic MUTYH . . . . . . . . . . 1 45332242 45332242 G A exonic MUTYH . nonsynonymous SNV MUTYH:NM_001048171:exon10:c.G815T:p.G272V,MUTYH:NM_001048172:exon10:c.G776T:p.G259V,MUTYH:NM_001048173:exon10:c.G773T:p.G258V,MUTYH:NM_001048174:exon10:c.G773T:p.G258V,MUTYH:NM_001128425:exon10:c.G857T:p.G286V,MUTYH:NM_001293190:exon10:c.G818T:p.G273V,MUTYH:NM_001293191:exon10:c.G806T:p.G269V,MUTYH:NM_001293192:exon10:c.G497T:p.G166V,MUTYH:NM_001293196:exon10:c.G497T:p.G166V,MUTYH:NM_012222:exon10:c.G848T:p.G283V,MUTYH:NM_001293195:exon11:c.G773T:p.G258V 1p34.1 . rs730881833 0.0 D 1.0 D 1.0 D 0.000 D 1 D 4.455 H -4.31 D -8.51 D 0.996 6.536 31 0.998 0.991 D 0.988 D 0.988 D 0.732 0 5.51 0.871 0.852 0.981 0.993 19.419 Deleterious
50 1 45332300 C T Pathogenic MUTYH . . . . . . . . . . 1 45332300 45332300 C T exonic MUTYH . nonsynonymous SNV MUTYH:NM_001048171:exon10:c.C757A:p.Q253K,MUTYH:NM_001048172:exon10:c.C718A:p.Q240K,MUTYH:NM_001048173:exon10:c.C715A:p.Q239K,MUTYH:NM_001048174:exon10:c.C715A:p.Q239K,MUTYH:NM_001128425:exon10:c.C799A:p.Q267K,MUTYH:NM_001293190:exon10:c.C760A:p.Q254K,MUTYH:NM_001293191:exon10:c.C748A:p.Q250K,MUTYH:NM_001293192:exon10:c.C439A:p.Q147K,MUTYH:NM_001293196:exon10:c.C439A:p.Q147K,MUTYH:NM_012222:exon10:c.C790A:p.Q264K,MUTYH:NM_001293195:exon11:c.C715A:p.Q239K 1p34.1 . . 0.88 T 0.102 B 0.034 B 0.000 D 1 D 0.455 N -2.97 D -0.92 N 0.369 0.484 7.305 0.816 0.841 D -0.127 T 0.541 D 0.732 0 5.64 0.917 0.949 0.988 0.939 12.749 Deleterious
51 1 45332440 C T Pathogenic/Likely pathogenic MUTYH . . . . . . . . . . 1 45332440 45332440 C T exonic MUTYH . synonymous SNV MUTYH:NM_001048171:exon9:c.C697A:p.R233R,MUTYH:NM_001048172:exon9:c.C658A:p.R220R,MUTYH:NM_001048173:exon9:c.C655A:p.R219R,MUTYH:NM_001048174:exon9:c.C655A:p.R219R,MUTYH:NM_001128425:exon9:c.C739A:p.R247R,MUTYH:NM_001293190:exon9:c.C700A:p.R234R,MUTYH:NM_001293191:exon9:c.C688A:p.R230R,MUTYH:NM_001293192:exon9:c.C379A:p.R127R,MUTYH:NM_001293196:exon9:c.C379A:p.R127R,MUTYH:NM_012222:exon9:c.C730A:p.R244R,MUTYH:NM_001293195:exon10:c.C655A:p.R219R 1p34.1 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
52 1 45332445 G A Pathogenic MUTYH . . . . . . . . . . 1 45332445 45332445 G A exonic MUTYH . nonsynonymous SNV MUTYH:NM_001048171:exon9:c.G692T:p.R231L,MUTYH:NM_001048172:exon9:c.G653T:p.R218L,MUTYH:NM_001048173:exon9:c.G650T:p.R217L,MUTYH:NM_001048174:exon9:c.G650T:p.R217L,MUTYH:NM_001128425:exon9:c.G734T:p.R245L,MUTYH:NM_001293190:exon9:c.G695T:p.R232L,MUTYH:NM_001293191:exon9:c.G683T:p.R228L,MUTYH:NM_001293192:exon9:c.G374T:p.R125L,MUTYH:NM_001293196:exon9:c.G374T:p.R125L,MUTYH:NM_012222:exon9:c.G725T:p.R242L,MUTYH:NM_001293195:exon10:c.G650T:p.R217L 1p34.1 . . 0.0 D 0.998 D 0.968 D 0.000 D 1 D 4.5 H -2.55 D -6.58 D 0.997 7.102 33 0.998 0.997 D 1.090 D 0.962 D 0.719 0 5.6 0.871 0.925 0.991 1.000 19.214 Deleterious
53 1 45332446 C T Pathogenic/Likely pathogenic MUTYH . . . . . . . . . . 1 45332446 45332446 C T exonic MUTYH . nonsynonymous SNV MUTYH:NM_001048171:exon9:c.C691A:p.R231S,MUTYH:NM_001048172:exon9:c.C652A:p.R218S,MUTYH:NM_001048173:exon9:c.C649A:p.R217S,MUTYH:NM_001048174:exon9:c.C649A:p.R217S,MUTYH:NM_001128425:exon9:c.C733A:p.R245S,MUTYH:NM_001293190:exon9:c.C694A:p.R232S,MUTYH:NM_001293191:exon9:c.C682A:p.R228S,MUTYH:NM_001293192:exon9:c.C373A:p.R125S,MUTYH:NM_001293196:exon9:c.C373A:p.R125S,MUTYH:NM_012222:exon9:c.C724A:p.R242S,MUTYH:NM_001293195:exon10:c.C649A:p.R217S 1p34.1 . . 0.0 D 1.0 D 0.997 D 0.000 D 1 D 4.5 H -2.53 D -5.64 D 0.997 5.697 26.8 0.997 0.978 D 1.082 D 0.958 D 0.719 0 4.69 0.917 1.036 0.993 1.000 14.184 Deleterious
54 1 45332458 C T Pathogenic/Likely pathogenic MUTYH . . . . . . . . . . 1 45332458 45332458 C T exonic MUTYH . synonymous SNV MUTYH:NM_001048171:exon9:c.C679A:p.R227R,MUTYH:NM_001048172:exon9:c.C640A:p.R214R,MUTYH:NM_001048173:exon9:c.C637A:p.R213R,MUTYH:NM_001048174:exon9:c.C637A:p.R213R,MUTYH:NM_001128425:exon9:c.C721A:p.R241R,MUTYH:NM_001293190:exon9:c.C682A:p.R228R,MUTYH:NM_001293191:exon9:c.C670A:p.R224R,MUTYH:NM_001293192:exon9:c.C361A:p.R121R,MUTYH:NM_001293196:exon9:c.C361A:p.R121R,MUTYH:NM_012222:exon9:c.C712A:p.R238R,MUTYH:NM_001293195:exon10:c.C637A:p.R213R 1p34.1 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
55 1 45332794 G A Pathogenic MUTYH . . . . . . . . . . 1 45332794 45332794 G A exonic MUTYH . nonsynonymous SNV MUTYH:NM_001048171:exon7:c.G503T:p.R168L,MUTYH:NM_001048172:exon7:c.G464T:p.R155L,MUTYH:NM_001048173:exon7:c.G461T:p.R154L,MUTYH:NM_001048174:exon7:c.G461T:p.R154L,MUTYH:NM_001128425:exon7:c.G545T:p.R182L,MUTYH:NM_001293190:exon7:c.G506T:p.R169L,MUTYH:NM_001293191:exon7:c.G494T:p.R165L,MUTYH:NM_001293192:exon7:c.G185T:p.R62L,MUTYH:NM_001293196:exon7:c.G185T:p.R62L,MUTYH:NM_012222:exon7:c.G536T:p.R179L,MUTYH:NM_001293195:exon8:c.G461T:p.R154L 1p34.1 7.7e-05 rs143353451 0.0 D 1.0 D 1.0 D 0.000 D 1 D 4.515 H -2.63 D -6.47 D 0.981 7.089 33 0.999 0.998 D 1.100 D 0.924 D 0.707 0 4.99 0.871 0.927 0.994 0.995 18.636 Deleterious
56 1 45332795 C T Pathogenic/Likely pathogenic MUTYH . . . . . . . . . . 1 45332795 45332795 C T exonic MUTYH . nonsynonymous SNV MUTYH:NM_001048171:exon7:c.C502A:p.R168S,MUTYH:NM_001048172:exon7:c.C463A:p.R155S,MUTYH:NM_001048173:exon7:c.C460A:p.R154S,MUTYH:NM_001048174:exon7:c.C460A:p.R154S,MUTYH:NM_001128425:exon7:c.C544A:p.R182S,MUTYH:NM_001293190:exon7:c.C505A:p.R169S,MUTYH:NM_001293191:exon7:c.C493A:p.R165S,MUTYH:NM_001293192:exon7:c.C184A:p.R62S,MUTYH:NM_001293196:exon7:c.C184A:p.R62S,MUTYH:NM_012222:exon7:c.C535A:p.R179S,MUTYH:NM_001293195:exon8:c.C460A:p.R154S 1p34.1 . . 0.0 D 1.0 D 1.0 D 0.000 D 1 A 4.515 H -2.65 D -5.55 D 0.987 5.361 25.9 0.993 0.902 D 0.613 D 0.650 D 0.707 0 2.93 0.917 1.048 0.996 0.997 13.604 Deleterious
57 1 45332803 A G Pathogenic MUTYH . . . . . . . . . . 1 45332803 45332803 A G exonic MUTYH . nonsynonymous SNV MUTYH:NM_001048171:exon7:c.A494C:p.Y165S,MUTYH:NM_001048172:exon7:c.A455C:p.Y152S,MUTYH:NM_001048173:exon7:c.A452C:p.Y151S,MUTYH:NM_001048174:exon7:c.A452C:p.Y151S,MUTYH:NM_001128425:exon7:c.A536C:p.Y179S,MUTYH:NM_001293190:exon7:c.A497C:p.Y166S,MUTYH:NM_001293191:exon7:c.A485C:p.Y162S,MUTYH:NM_001293192:exon7:c.A176C:p.Y59S,MUTYH:NM_001293196:exon7:c.A176C:p.Y59S,MUTYH:NM_012222:exon7:c.A527C:p.Y176S,MUTYH:NM_001293195:exon8:c.A452C:p.Y151S 1p34.1 . . 0.0 D 1.0 D 1.0 D 0.000 D 1 D 4.505 H -2.16 D -8.62 D 0.979 5.385 26.0 0.992 0.995 D 1.048 D 0.884 D 0.707 0 5.01 0.991 1.061 1.000 1.000 15.014 Deleterious
58 1 45332955 G A Pathogenic MUTYH . . . . . . . . . . 1 45332955 45332955 G A exonic MUTYH . nonsynonymous SNV MUTYH:NM_001048171:exon6:c.G425T:p.W142L,MUTYH:NM_001048172:exon6:c.G386T:p.W129L,MUTYH:NM_001048173:exon6:c.G383T:p.W128L,MUTYH:NM_001048174:exon6:c.G383T:p.W128L,MUTYH:NM_001128425:exon6:c.G467T:p.W156L,MUTYH:NM_001293190:exon6:c.G428T:p.W143L,MUTYH:NM_001293191:exon6:c.G416T:p.W139L,MUTYH:NM_001293192:exon6:c.G107T:p.W36L,MUTYH:NM_001293196:exon6:c.G107T:p.W36L,MUTYH:NM_012222:exon6:c.G458T:p.W153L,MUTYH:NM_001293195:exon7:c.G383T:p.W128L 1p34.1 . . 0.099 T 1.0 D 0.999 D 0.000 D 1 D 1.72 L -2.02 D -11.46 D 0.822 6.571 31 0.986 0.996 D 0.536 D 0.714 D 0.707 0 5.02 0.871 0.935 0.993 0.997 18.692 Deleterious
59 1 45333168 T A Pathogenic MUTYH . . . . . . . . . . 1 45333168 45333168 T A exonic MUTYH . synonymous SNV MUTYH:NM_001048171:exon5:c.T349T:p.W117W,MUTYH:NM_001048172:exon5:c.T310T:p.W104W,MUTYH:NM_001048173:exon5:c.T307T:p.W103W,MUTYH:NM_001048174:exon5:c.T307T:p.W103W,MUTYH:NM_001128425:exon5:c.T391T:p.W131W,MUTYH:NM_001293190:exon5:c.T352T:p.W118W,MUTYH:NM_001293191:exon5:c.T340T:p.W114W,MUTYH:NM_001293192:exon5:c.T31T:p.W11W,MUTYH:NM_001293196:exon5:c.T31T:p.W11W,MUTYH:NM_012222:exon5:c.T382T:p.W128W,MUTYH:NM_001293195:exon6:c.T307T:p.W103W 1p34.1 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
60 1 45333171 G C Pathogenic/Likely pathogenic MUTYH . . . . . . . . . . 1 45333171 45333171 G C splicing MUTYH NM_001048173:exon5:c.305-1C>G,NM_001048172:exon5:c.308-1C>G,NM_001048171:exon5:c.347-1C>G,NM_012222:exon5:c.380-1C>G,NM_001293190:exon5:c.350-1C>G,NM_001293196:exon5:c.29-1C>G,NM_001293195:exon6:c.305-1C>G,NM_001293192:exon5:c.29-1C>G,NM_001293191:exon5:c.338-1C>G,NM_001048174:exon5:c.305-1C>G,NM_001128425:exon5:c.389-1C>G . . 1p34.1 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .
61 1 45333436 C T Pathogenic/Likely pathogenic MUTYH . . . . . . . . . . 1 45333436 45333436 C T exonic MUTYH . synonymous SNV MUTYH:NM_001048171:exon3:c.C283A:p.R95R,MUTYH:NM_001048172:exon3:c.C244A:p.R82R,MUTYH:NM_001048173:exon3:c.C241A:p.R81R,MUTYH:NM_001048174:exon3:c.C241A:p.R81R,MUTYH:NM_001128425:exon3:c.C325A:p.R109R,MUTYH:NM_001293190:exon3:c.C286A:p.R96R,MUTYH:NM_001293191:exon3:c.C274A:p.R92R,MUTYH:NM_012222:exon3:c.C316A:p.R106R,MUTYH:NM_001293195:exon4:c.C241A:p.R81R 1p34.1 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
62 1 45333449 C A Pathogenic MUTYH . . . . . . . . . . 1 45333449 45333449 C A exonic MUTYH . synonymous SNV MUTYH:NM_001048171:exon3:c.C270T:p.Y90Y,MUTYH:NM_001048172:exon3:c.C231T:p.Y77Y,MUTYH:NM_001048173:exon3:c.C228T:p.Y76Y,MUTYH:NM_001048174:exon3:c.C228T:p.Y76Y,MUTYH:NM_001128425:exon3:c.C312T:p.Y104Y,MUTYH:NM_001293190:exon3:c.C273T:p.Y91Y,MUTYH:NM_001293191:exon3:c.C261T:p.Y87Y,MUTYH:NM_012222:exon3:c.C303T:p.Y101Y,MUTYH:NM_001293195:exon4:c.C228T:p.Y76Y 1p34.1 0.0018 rs121908380 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
63 1 45333452 G A Pathogenic MUTYH . . . . . . . . . . 1 45333452 45333452 G A exonic MUTYH . nonsynonymous SNV MUTYH:NM_001048171:exon3:c.G267T:p.W89C,MUTYH:NM_001048172:exon3:c.G228T:p.W76C,MUTYH:NM_001048173:exon3:c.G225T:p.W75C,MUTYH:NM_001048174:exon3:c.G225T:p.W75C,MUTYH:NM_001128425:exon3:c.G309T:p.W103C,MUTYH:NM_001293190:exon3:c.G270T:p.W90C,MUTYH:NM_001293191:exon3:c.G258T:p.W86C,MUTYH:NM_012222:exon3:c.G300T:p.W100C,MUTYH:NM_001293195:exon4:c.G225T:p.W75C 1p34.1 . . 0.0 D 1.0 D 1.0 D 0.000 D 1 D 3.77 H -1.03 T -11.72 D 0.964 6.039 28.0 0.991 0.997 D 1.067 D 0.936 D 0.732 0 5.86 0.871 0.935 0.981 0.870 20.177 Deleterious
64 1 45333472 C T Pathogenic MUTYH . . . . . . . . . . 1 45333472 45333472 C T exonic MUTYH . synonymous SNV MUTYH:NM_001048171:exon3:c.C247A:p.R83R,MUTYH:NM_001048172:exon3:c.C208A:p.R70R,MUTYH:NM_001048173:exon3:c.C205A:p.R69R,MUTYH:NM_001048174:exon3:c.C205A:p.R69R,MUTYH:NM_001128425:exon3:c.C289A:p.R97R,MUTYH:NM_001293190:exon3:c.C250A:p.R84R,MUTYH:NM_001293191:exon3:c.C238A:p.R80R,MUTYH:NM_012222:exon3:c.C280A:p.R94R,MUTYH:NM_001293195:exon4:c.C205A:p.R69R 1p34.1 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
65 1 45334493 C T Pathogenic MUTYH . . . . . . . . . . 1 45334493 45334493 C T exonic MUTYH . synonymous SNV MUTYH:NM_001048171:exon2:c.C55A:p.R19R,MUTYH:NM_001048172:exon2:c.C13A:p.R5R,MUTYH:NM_001048173:exon2:c.C13A:p.R5R,MUTYH:NM_001048174:exon2:c.C13A:p.R5R,MUTYH:NM_001128425:exon2:c.C55A:p.R19R,MUTYH:NM_001293190:exon2:c.C55A:p.R19R,MUTYH:NM_001293191:exon2:c.C13A:p.R5R,MUTYH:NM_012222:exon2:c.C55A:p.R19R,MUTYH:NM_001293195:exon3:c.C13A:p.R5R 1p34.1 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
66 1 45508329 C T Pathogenic MMACHC . . . . . . . . . . 1 45508329 45508329 C T exonic MMACHC . stopgain MMACHC:NM_015506:exon3:c.C394T:p.R132X 1p34.1 8.3e-05 rs121918241 . . . . . . 0.001 D 1 A . . . . . . . 12.841 40 0.998 0.759 D . . . . 0.632 0 5.8 0.871 0.064 0.999 0.997 14.494 Deleterious (FATHMM)
67 1 45508806 G C Pathogenic/Likely pathogenic MMACHC . . . . . . . . . . 1 45508806 45508806 G C exonic MMACHC . nonsynonymous SNV MMACHC:NM_015506:exon4:c.G440C:p.G147A 1p34.1 0.0003 rs140522266 0.017 D 0.962 D 0.49 P 0.000 D 1 D 2.79 M -4.33 D -5.22 D 0.978 5.854 27.3 0.995 0.987 D 1.040 D 0.915 D 0.632 0 5.57 0.917 1.048 1.000 0.998 19.148 Deleterious
68 1 45508847 C T Pathogenic MMACHC . . . . . . . . . . 1 45508847 45508847 C T exonic MMACHC . stopgain MMACHC:NM_015506:exon4:c.C481T:p.R161X 1p34.1 8.1e-05 rs370596113 . . . . . . 0.000 D 1 D . . . . . . . 11.973 38 0.997 0.914 D . . . . 0.632 0 3.79 -0.048 0.036 0.990 0.996 14.594 Deleterious (FATHMM)
69 1 45508848 G A Pathogenic MMACHC . . . . . . . . . . 1 45508848 45508848 G A exonic MMACHC . nonsynonymous SNV MMACHC:NM_015506:exon4:c.G482A:p.R161Q 1p34.1 8.1e-05 rs121918243 0.0 D 1.0 D 1.0 D 0.000 D 1 A 2.83 M -4.57 D -3.73 D 0.983 7.500 34 1.000 0.983 D 1.101 D 0.963 D 0.632 0 5.71 0.917 1.048 0.992 0.997 19.448 Deleterious
70 1 46192097 G A Pathogenic/Likely pathogenic TSPAN1|POMGNT1 . . . . . . . . . . 1 46192097 46192097 G A splicing POMGNT1 NM_017739:exon17:c.1539+1C>T,NM_001243766:exon17:c.1539+1C>T,NM_001290130:exon16:c.1110+1C>T,NM_001290129:exon16:c.1473+1C>T . . 1p34.1 . rs138642840 . . . . . . . . 1 D . . . . . . . 6.141 28.4 0.995 0.973 D . . . . 0.295 0 6.07 0.871 0.855 0.947 0.879 20.644 Deleterious (FATHMM)
71 1 46192397 C T Pathogenic TSPAN1|POMGNT1 . . . . . . . . . . 1 46192397 46192397 C T exonic POMGNT1 . nonsynonymous SNV POMGNT1:NM_001290129:exon15:c.C1258A:p.R420S,POMGNT1:NM_001290130:exon15:c.C895A:p.R299S,POMGNT1:NM_001243766:exon16:c.C1324A:p.R442S,POMGNT1:NM_017739:exon16:c.C1324A:p.R442S 1p34.1 . . 0.0 D 1.0 D 1.0 D 0.000 D 1 D 3.54 H -2.39 D -5.56 D 0.995 6.801 32 0.998 0.913 D 0.948 D 0.868 D 0.707 0 5.74 0.917 1.048 1.000 1.000 14.729 Deleterious
72 1 53202427 C T Pathogenic CPT2 . . . . . . . . . . 1 53202427 53202427 C T exonic CPT2 . nonsynonymous SNV CPT2:NM_000098:exon3:c.C338T:p.S113L 1p32.3 0.0014 rs74315294 0.001 D 0.999 D 0.981 D 0.000 D 1 A 3.52 H -2.71 D -4.89 D 0.935 7.538 34 0.999 0.990 D 0.984 D 0.898 D 0.732 0 5.88 0.871 0.935 0.993 0.891 19.851 Deleterious
73 1 53210560 C T Pathogenic/Likely pathogenic CPT2 . . . . . . . . . . 1 53210560 53210560 C T exonic CPT2 . stopgain CPT2:NM_000098:exon4:c.C886T:p.R296X 1p32.3 . rs727503887 . . . . . . 0.000 D 1 A . . . . . . . 11.323 37 0.998 0.965 D . . . . 0.732 0 4.49 0.871 0.852 1.000 0.992 13.190 Deleterious (FATHMM)
74 1 63402348 G A Pathogenic ALG6 . . . . . . . . . . 1 63402348 63402348 G A intronic ALG6 . . . 1p31.3 0.0008 rs199682486 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . probably Tolerated (Intron)
75 1 75732682 C T Pathogenic ACADM . . . . . . . . . . 1 75732682 75732682 C T exonic ACADM . nonsynonymous SNV ACADM:NM_001286042:exon2:c.C49T:p.R17C,ACADM:NM_000016:exon3:c.C157T:p.R53C,ACADM:NM_001127328:exon3:c.C169T:p.R57C,ACADM:NM_001286043:exon3:c.C157T:p.R53C 1p31.1 . rs398123072 0.0 D 1.0 D 0.996 D 0.000 N 1 D 4.37 H -7.05 D -6.67 D 0.801 5.747 26.9 0.999 0.934 D 0.903 D 0.996 D 0.732 0 4.86 0.871 0.852 0.822 0.998 14.224 Deleterious
76 1 75732724 T C Pathogenic ACADM . . . . . . . . . . 1 75732724 75732724 T C exonic ACADM . nonsynonymous SNV ACADM:NM_001286042:exon2:c.T91C:p.Y31H,ACADM:NM_000016:exon3:c.T199C:p.Y67H,ACADM:NM_001127328:exon3:c.T211C:p.Y71H,ACADM:NM_001286043:exon3:c.T199C:p.Y67H 1p31.1 0.0008 rs121434280 0.291 T 0.078 B 0.168 B 0.000 N 1 A 0.6 N -6.47 D -2.43 N 0.424 2.685 20.7 0.988 0.988 D 0.880 D 0.914 D 0.732 0 4.45 0.991 0.964 0.084 1.000 10.942 Deleterious
77 1 75732869 T C Pathogenic ACADM . . . . . . . . . . 1 75732869 75732869 T C exonic ACADM . nonsynonymous SNV ACADM:NM_001286042:exon3:c.T125C:p.I42T,ACADM:NM_000016:exon4:c.T233C:p.I78T,ACADM:NM_001127328:exon4:c.T245C:p.I82T,ACADM:NM_001286043:exon4:c.T233C:p.I78T 1p31.1 . rs398123074 0.002 D 0.979 D 0.987 D 0.000 D 1 D 2.83 M -6.55 D -3.38 D 0.967 6.019 27.9 0.997 0.988 D 0.999 D 0.988 D 0.732 0 5.28 0.991 0.913 0.640 0.942 14.867 Deleterious
78 1 75733603 C T Pathogenic ACADM . . . . . . . . . . 1 75733603 75733603 C T exonic ACADM . nonsynonymous SNV ACADM:NM_001286042:exon4:c.C254T:p.T85I,ACADM:NM_000016:exon5:c.C362T:p.T121I,ACADM:NM_001127328:exon5:c.C374T:p.T125I,ACADM:NM_001286043:exon6:c.C461T:p.T154I 1p31.1 . rs121434283 0.018 D 0.849 P 0.899 P 0.000 D 1 A 2.045 M -6.43 D -4.32 D 0.981 6.541 31 0.999 0.993 D 1.070 D 0.985 D 0.732 0 5.69 0.871 0.807 0.995 0.997 19.423 Deleterious
79 1 75740094 G A Pathogenic/Likely pathogenic ACADM . . . . . . . . . . 1 75740094 75740094 G A exonic ACADM . nonsynonymous SNV ACADM:NM_001286044:exon4:c.G16A:p.G6R,ACADM:NM_001286042:exon6:c.G475A:p.G159R,ACADM:NM_000016:exon7:c.G583A:p.G195R,ACADM:NM_001127328:exon7:c.G595A:p.G199R,ACADM:NM_001286043:exon8:c.G682A:p.G228R 1p31.1 0.0002 rs121434278 0.0 D 1.0 D 0.999 D 0.000 D 1 A 3.985 H -4.15 D -6.8 D 0.995 7.368 34 0.999 0.989 D 1.018 D 0.987 D 0.732 0 5.46 0.917 1.048 0.997 0.990 18.922 Deleterious
80 1 75745788 G A Pathogenic/Likely pathogenic ACADM . . . . . . . . . . 1 75745788 75745788 G A intronic ACADM . . . 1p31.1 0.0002 rs370523609 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . probably Tolerated (Intron)
81 1 75749507 A G Pathogenic ACADM . . . . . . . . . . 1 75749507 75749507 A G exonic ACADM . nonsynonymous SNV ACADM:NM_001286044:exon6:c.A230G:p.D77G,ACADM:NM_001286042:exon8:c.A689G:p.D230G,ACADM:NM_000016:exon9:c.A797G:p.D266G,ACADM:NM_001127328:exon9:c.A809G:p.D270G,ACADM:NM_001286043:exon10:c.A896G:p.D299G 1p31.1 7.7e-05 rs201375579 0.023 D 0.004 B 0.01 B 0.000 D 1.000 D 0.55 N -5.18 D -3.14 D 0.745 4.663 24.5 0.997 0.988 D 0.565 D 0.823 D 0.732 0 5.73 1.062 1.199 0.995 0.991 15.690 Deleterious
82 1 75749509 G A Pathogenic ACADM . . . . . . . . . . 1 75749509 75749509 G A exonic ACADM . nonsynonymous SNV ACADM:NM_001286044:exon6:c.G232A:p.G78R,ACADM:NM_001286042:exon8:c.G691A:p.G231R,ACADM:NM_000016:exon9:c.G799A:p.G267R,ACADM:NM_001127328:exon9:c.G811A:p.G271R,ACADM:NM_001286043:exon10:c.G898A:p.G300R 1p31.1 7.7e-05 rs121434274 0.0 D 1.0 D 1.0 D 0.000 D 1 A 3.3 M -4.4 D -7.67 D 0.974 7.390 34 0.999 0.989 D 1.098 D 0.963 D 0.732 0 5.73 0.917 1.048 0.995 0.991 19.508 Deleterious
83 1 75761161 A G Pathogenic ACADM . . . . . . . . . . 1 75761161 75761161 A G exonic ACADM . nonsynonymous SNV ACADM:NM_001286044:exon8:c.A418G:p.K140E,ACADM:NM_001286042:exon10:c.A877G:p.K293E,ACADM:NM_000016:exon11:c.A985G:p.K329E,ACADM:NM_001127328:exon11:c.A997G:p.K333E,ACADM:NM_001286043:exon12:c.A1084G:p.K362E 1p31.1 0.0054 rs77931234 0.208 T 0.831 P 0.324 B 0.000 D 1 D -0.21 N -3.7 D -0.68 N 0.957 2.975 22.1 0.996 0.980 D 0.161 D 0.518 D 0.732 0 5.21 1.062 1.140 0.999 1.000 14.213 Deleterious
84 1 94001911 C T Pathogenic/Likely pathogenic, not provided ABCA4 . . . . . . . . . . 1 94001911 94001911 C T exonic ABCA4 . synonymous SNV ABCA4:NM_000350:exon45:c.C6229A:p.R2077R 1p22.1 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
85 1 94005499 G A Pathogenic/Likely pathogenic, not provided ABCA4 . . . . . . . . . . 1 94005499 94005499 G A exonic ABCA4 . nonsynonymous SNV ABCA4:NM_000350:exon44:c.G6089T:p.R2030L 1p22.1 . . 0.002 D 0.995 D 0.987 D 0.000 D 1.000 D 1.755 L -3.39 D -5.48 D 0.953 7.613 34 0.999 0.982 D 0.858 D 0.826 D 0.625 0 5.02 0.871 0.935 0.952 0.995 14.99 Deleterious
86 1 94005509 C T Pathogenic ABCA4 . . . . . . . . . . 1 94005509 94005509 C T exonic ABCA4 . nonsynonymous SNV ABCA4:NM_000350:exon44:c.C6079A:p.L2027I 1p22.1 . . 0.003 D 1.0 D 0.999 D 0.000 D 1.000 D 1.975 M -4.22 D -1.84 N 0.786 6.395 29.6 0.996 0.988 D 1.070 D 0.938 D 0.549 0 5.93 0.917 1.048 0.998 1.000 20.341 Deleterious
87 1 94008251 G A Pathogenic/Likely pathogenic, not provided, risk factor ABCA4 . . . . . . . . . . 1 94008251 94008251 G A exonic ABCA4 . nonsynonymous SNV ABCA4:NM_000350:exon42:c.G5882T:p.G1961V 1p22.1 . . 0.0 D 1.0 D 0.995 D 0.000 D 1 D 0.565 N -3.32 D -7.59 D 0.97 7.006 33 0.997 0.991 D 0.751 D 0.787 D 0.549 0 5.35 0.871 0.935 0.970 0.895 19.614 Deleterious
88 1 94010795 G A Pathogenic ABCA4 . . . . . . . . . . 1 94010795 94010795 G A intronic ABCA4 . . . 1p22.1 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . probably Tolerated (Intron)
89 1 94019581 G A Pathogenic ABCA4 . . . . . . . . . . 1 94019581 94019581 G A splicing ABCA4 NM_000350:exon36:c.5196+1C>T . . 1p22.1 . . . . . . . . . . 1 D . . . . . . . 4.870 24.9 0.991 0.983 D . . . . 0.081 0 5.38 0.871 0.935 0.959 0.455 19.324 Deleterious (FATHMM)
90 1 94021339 G A Pathogenic ABCA4 . . . . . . . . . . 1 94021339 94021339 G A exonic ABCA4 . nonsynonymous SNV ABCA4:NM_000350:exon35:c.G4919T:p.R1640L 1p22.1 . . 0.001 D 1.0 D 0.994 D 0.298 N 1.000 D 3.375 M -2.33 D -6.18 D 0.991 7.961 35 0.999 0.901 D 0.307 D 0.863 D 0.497 0 5.42 0.871 0.932 0.973 0.992 19.408 Deleterious
91 1 94024994 G A Pathogenic/Likely pathogenic, not provided ABCA4 . . . . . . . . . . 1 94024994 94024994 G A exonic ABCA4 . nonsynonymous SNV ABCA4:NM_000350:exon31:c.G4594T:p.D1532Y 1p22.1 . . 0.001 D 1.0 D 0.997 D 0.000 D 1 D 2.645 M -3.94 D -7.63 D 0.982 7.576 34 0.995 0.981 D 1.051 D 0.926 D 0.554 0 5.09 0.871 0.852 0.998 0.994 18.688 Deleterious
92 1 94029515 G A Pathogenic ABCA4 . . . . . . . . . . 1 94029515 94029515 G A exonic ABCA4 . nonsynonymous SNV ABCA4:NM_000350:exon30:c.G4469T:p.C1490F 1p22.1 . . 0.0 D 0.777 P 0.569 P 0.000 D 1 D 2.725 M -4.52 D -9.85 D 0.983 7.201 34 0.992 0.991 D 1.096 D 0.934 D 0.615 0 5.24 0.871 0.935 0.998 0.996 19.086 Deleterious
93 1 94029522 T C Pathogenic/Likely pathogenic, not provided ABCA4 . . . . . . . . . . 1 94029522 94029522 T C exonic ABCA4 . nonsynonymous SNV ABCA4:NM_000350:exon30:c.T4462G:p.C1488G 1p22.1 . . 0.003 D 0.997 D 0.93 D 0.000 D 1 D 2.725 M -4.49 D -10.57 D 0.971 5.459 26.1 0.987 0.993 D 1.099 D 0.950 D 0.615 0 5.24 1.062 1.199 0.944 0.941 15.361 Deleterious
94 1 94031110 C T Pathogenic, not provided, risk factor ABCA4 . . . . . . . . . . 1 94031110 94031110 C T exonic ABCA4 . nonsynonymous SNV ABCA4:NM_000350:exon28:c.C4139A:p.P1380Q 1p22.1 . . 0.001 D 0.998 D 0.967 D 0.005 N 1.000 D 2.975 M -5.22 D -7.05 D 0.961 5.786 27.1 0.991 0.979 D 1.094 D 0.972 D 0.554 0 5.0 0.917 1.048 0.987 0.036 16.658 Deleterious
95 1 94042767 C T Pathogenic/Likely pathogenic, not provided ABCA4 . . . . . . . . . . 1 94042767 94042767 C T exonic ABCA4 . nonsynonymous SNV ABCA4:NM_000350:exon22:c.C3322A:p.R1108S 1p22.1 . . 0.001 D 0.639 P 0.217 B 0.000 D 1 D 1.155 L -3.61 D -4.85 D 0.919 7.209 34 0.999 0.984 D 0.495 D 0.682 D 0.633 0 5.76 0.917 0.953 0.998 0.998 19.972 Deleterious
96 1 94043413 C T Pathogenic ABCA4 . . . . . . . . . . 1 94043413 94043413 C T exonic ABCA4 . nonsynonymous SNV ABCA4:NM_000350:exon21:c.C3113A:p.A1038D 1p22.1 . . 0.006 D 0.183 B 0.184 B 0.000 D 1 D 1.37 L -3.27 D -3.68 D 0.804 6.821 32 0.997 0.990 D 0.274 D 0.698 D 0.601 0 5.92 0.917 0.949 1.000 1.000 20.332 Deleterious
97 1 94051698 G C Pathogenic ABCA4 . . . . . . . . . . 1 94051698 94051698 G C exonic ABCA4 . synonymous SNV ABCA4:NM_000350:exon17:c.G2588G:p.G863G 1p22.1 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
98 1 94055134 G A Pathogenic ABCA4 . . . . . . . . . . 1 94055134 94055134 G A exonic ABCA4 . nonsynonymous SNV ABCA4:NM_000350:exon16:c.G2564T:p.W855L 1p22.1 . . 0.003 D 0.995 D 0.928 D 0.000 D 1.000 D 1.805 L -3.63 D -10.77 D 0.887 5.060 25.2 0.989 0.981 D 0.928 D 0.870 D 0.554 0 5.41 0.871 0.935 0.996 0.996 18.792 Deleterious
99 1 94062710 C T Pathogenic ABCA4 . . . . . . . . . . 1 94062710 94062710 C T exonic ABCA4 . synonymous SNV ABCA4:NM_000350:exon13:c.C1804A:p.R602R 1p22.1 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
100 1 94079339 C T Pathogenic ABCA4 . . . . . . . . . . 1 94079339 94079339 C T exonic ABCA4 . synonymous SNV ABCA4:NM_000350:exon9:c.C1222A:p.R408R 1p22.1 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
101 1 94098794 G T Pathogenic ABCA4 . . . . . . . . . . 1 94098794 94098794 G T exonic ABCA4 . synonymous SNV ABCA4:NM_000350:exon6:c.G768A:p.V256V 1p22.1 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
102 1 94098928 C T Pathogenic ABCA4 . . . . . . . . . . 1 94098928 94098928 C T exonic ABCA4 . nonsynonymous SNV ABCA4:NM_000350:exon6:c.C634A:p.R212S 1p22.1 . . 0.284 T 0.994 D 0.875 P 0.000 D 0.999 D 2.395 M -2.72 D -2.3 N 0.852 5.492 26.2 0.996 0.961 D 0.604 D 0.800 D 0.497 0 5.83 0.917 1.048 0.972 0.997 17.904 Deleterious
103 1 94111579 G A Pathogenic/Likely pathogenic, not provided ABCA4 . . . . . . . . . . 1 94111579 94111579 G A exonic ABCA4 . nonsynonymous SNV ABCA4:NM_000350:exon3:c.G161T:p.C54F 1p22.1 . rs150774447 0.0 D 1.0 D 1.0 D 0.000 N 1 D 3.195 M -5.56 D -9.24 D 0.991 6.669 32 0.990 0.993 D 1.055 D 0.985 D 0.428 0 5.52 0.871 0.935 0.998 0.996 18.217 Deleterious
104 1 94113068 A G Pathogenic ABCA4 . . . . . . . . . . 1 94113068 94113068 A G splicing ABCA4 NM_000350:exon2:c.67-2T>C . . 1p22.1 . . . . . . . . . . 1 D . . . . . . . 5.240 25.6 0.995 0.993 D . . . . 0.096 0 5.89 0.991 1.061 0.995 0.999 15.295 Deleterious (FATHMM)
105 1 94121045 A G Pathogenic ABCA4 . . . . . . . . . . 1 94121045 94121045 A G exonic ABCA4 . nonsynonymous SNV ABCA4:NM_000350:exon1:c.A1C:p.M1L 1p22.1 . . 0.0 D 0.962 D 0.867 P 0.000 D 1 D . . 0.53 T -2.18 N 0.957 4.998 25.1 0.967 0.980 D -0.672 T 0.203 T 0.497 0 3.76 0.991 1.061 0.899 0.281 10.108 Tolerated
106 1 99916398 A G Pathogenic/Likely pathogenic AGL . . . . . . . . . . 1 99916398 99916398 A G intronic AGL . . . 1p21.2 0.0002 rs369973784 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . probably Tolerated (Intron)
107 1 100214817 G C Pathogenic DBT . . . . . . . . . . 1 100214817 100214817 G C exonic DBT . synonymous SNV DBT:NM_001918:exon7:c.G939G:p.K313K 1p21.2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
108 1 100214855 C T Pathogenic DBT . . . . . . . . . . 1 100214855 100214855 C T exonic DBT . nonsynonymous SNV DBT:NM_001918:exon7:c.C901A:p.R301S 1p21.2 . . 0.066 T 0.658 P 0.459 P 0.000 D 1 D 0.8 N 0.99 T -2.94 D 0.907 4.221 23.9 0.998 0.994 D -1.031 T 0.078 T 0.707 0 5.44 0.917 0.953 0.995 0.997 19.275 Tolerated
109 1 114716126 G C Pathogenic NRAS . . . . . . . . . . 1 114716126 114716126 G C exonic NRAS . synonymous SNV NRAS:NM_002524:exon2:c.G35G:p.G12G 1p13.2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
110 1 114716126 G T Pathogenic NRAS . . . . . . . . . . 1 114716126 114716126 G T exonic NRAS . nonsynonymous SNV NRAS:NM_002524:exon2:c.G35A:p.G12D 1p13.2 7.7e-05 rs121913237 0.011 D 0.372 B 0.399 B 0.000 U 1 D 3.325 M -1.19 T -5.35 D 0.951 6.806 32 0.998 0.911 D 0.160 D 0.565 D 0.628 0 5.58 0.871 0.935 0.999 1.000 19.377 Deleterious
111 1 155235002 G A Pathogenic GBA . . . . . . . . . . 1 155235002 155235002 G A exonic GBA . nonsynonymous SNV GBA:NM_001171811:exon10:c.G1343T:p.R448L,GBA:NM_001171812:exon10:c.G1457T:p.R486L,GBA:NM_000157:exon11:c.G1604T:p.R535L,GBA:NM_001005741:exon12:c.G1604T:p.R535L,GBA:NM_001005742:exon12:c.G1604T:p.R535L 1q22 . . 0.012 D 0.963 D 0.652 P 0.134 U 0.816 N 0.345 N -3.77 D -2.65 D 0.744 4.662 24.5 0.986 0.815 D -0.067 T 0.588 D 0.732 0 1.17 0.033 -0.077 0.966 0.952 5.522 Deleterious
112 1 155235196 C T Pathogenic, risk factor GBA . . . . . . . . . . 1 155235196 155235196 C T exonic GBA . nonsynonymous SNV GBA:NM_001171811:exon9:c.C1243A:p.R415S,GBA:NM_001171812:exon9:c.C1357A:p.R453S,GBA:NM_000157:exon10:c.C1504A:p.R502S,GBA:NM_001005741:exon11:c.C1504A:p.R502S,GBA:NM_001005742:exon11:c.C1504A:p.R502S 1q22 . rs80356771 0.14 T 0.065 B 0.062 B 0.003 N 0.999 D 1.025 L -5.77 D -3.1 D 0.622 2.763 21.2 0.975 0.542 D 0.701 D 0.836 D 0.706 0 2.11 -0.045 0.803 0.939 0.722 9.221 Deleterious
113 1 155235727 G C Pathogenic GBA . . . . . . . . . . 1 155235727 155235727 G C exonic GBA . synonymous SNV GBA:NM_001171811:exon8:c.G1081G:p.D361D,GBA:NM_001171812:exon8:c.G1195G:p.D399D,GBA:NM_000157:exon9:c.G1342G:p.D448D,GBA:NM_001005741:exon10:c.G1342G:p.D448D,GBA:NM_001005742:exon10:c.G1342G:p.D448D 1q22 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
114 1 155235843 A G Pathogenic, risk factor GBA . . . . . . . . . . 1 155235843 155235843 A G exonic GBA . nonsynonymous SNV GBA:NM_001171811:exon8:c.A965C:p.N322T,GBA:NM_001171812:exon8:c.A1079C:p.N360T,GBA:NM_000157:exon9:c.A1226C:p.N409T,GBA:NM_001005741:exon10:c.A1226C:p.N409T,GBA:NM_001005742:exon10:c.A1226C:p.N409T 1q22 . rs76763715 0.011 D 0.954 P 0.766 P 0.000 D 1 D 1.46 L -5.8 D -3.06 D 0.485 5.585 26.5 0.995 0.982 D 1.040 D 0.939 D 0.732 0 3.53 0.991 0.916 0.728 0.990 10.328 Deleterious
115 1 155237453 G A Pathogenic GBA . . . . . . . . . . 1 155237453 155237453 G A exonic GBA . nonsynonymous SNV GBA:NM_001171811:exon6:c.G626T:p.R209L,GBA:NM_001171812:exon6:c.G740T:p.R247L,GBA:NM_000157:exon7:c.G887T:p.R296L,GBA:NM_001005741:exon8:c.G887T:p.R296L,GBA:NM_001005742:exon8:c.G887T:p.R296L 1q22 . . 0.014 D 1.0 D 0.995 D 0.000 D 1.000 D 2.745 M -6.25 D -6.23 D 0.779 6.904 33 0.998 0.971 D 1.056 D 0.982 D 0.706 0 3.51 0.871 0.818 0.997 0.999 10.668 Deleterious
116 1 155291845 G A Pathogenic PKLR . . . . . . . . . . 1 155291845 155291845 G A exonic PKLR . nonsynonymous SNV PKLR:NM_000298:exon10:c.G1529T:p.R510L,PKLR:NM_181871:exon10:c.G1436T:p.R479L 1q22 . . 0.0 D 0.978 D 0.85 P 0.000 D 1 D 2.79 M -5.55 D -6.48 D 0.968 7.920 35 0.998 0.987 D 1.090 D 0.969 D 0.624 0 4.85 0.871 0.932 0.985 1.000 15.860 Deleterious
117 1 155291918 C T Pathogenic/Likely pathogenic PKLR . . . . . . . . . . 1 155291918 155291918 C T exonic PKLR . synonymous SNV PKLR:NM_000298:exon10:c.C1456A:p.R486R,PKLR:NM_181871:exon10:c.C1363A:p.R455R 1q22 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
118 1 155294726 G T Pathogenic PKLR . . . . . . . . . . 1 155294726 155294726 G T exonic PKLR . nonsynonymous SNV PKLR:NM_000298:exon6:c.G721A:p.E241K,PKLR:NM_181871:exon6:c.G628A:p.E210K 1q22 . . 0.241 T 0.504 P 0.545 P 0.000 D 1 D 1.845 L -5.78 D -3.19 D 0.371 3.541 23.1 0.999 0.972 D 1.048 D 0.926 D 0.652 0 3.56 0.871 0.888 0.196 0.839 10.622 Deleterious
119 1 155904456 G C Pathogenic RIT1 . . . . . . . . . . 1 155904456 155904456 G C exonic RIT1 . synonymous SNV RIT1:NM_001256820:exon4:c.G176G:p.G59G,RIT1:NM_001256821:exon5:c.G335G:p.G112G,RIT1:NM_006912:exon5:c.G284G:p.G95G 1q22 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
120 1 155904470 G A Pathogenic RIT1 . . . . . . . . . . 1 155904470 155904470 G A exonic RIT1 . nonsynonymous SNV RIT1:NM_001256820:exon4:c.G162T:p.M54I,RIT1:NM_001256821:exon5:c.G321T:p.M107I,RIT1:NM_006912:exon5:c.G270T:p.M90I 1q22 . . 0.156 T 0.999 D 0.998 D 0.000 D 1 D -0.005 N -1.0 T -3.76 D 0.757 5.223 25.6 0.996 0.981 D -0.247 T 0.323 T 0.707 0 5.76 0.871 0.892 1.000 1.000 19.572 Tolerated
121 1 155904798 C G Pathogenic RIT1 . . . . . . . . . . 1 155904798 155904798 C G exonic RIT1 . synonymous SNV RIT1:NM_001256820:exon3:c.C62C:p.A21A,RIT1:NM_001256821:exon4:c.C221C:p.A74A,RIT1:NM_006912:exon4:c.C170C:p.A57A 1q22 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
122 1 155910658 G C Pathogenic RIT1 . . . . . . . . . . 1 155910658 155910658 G C exonic RIT1 . synonymous SNV RIT1:NM_001256821:exon2:c.G155G:p.S52S,RIT1:NM_006912:exon2:c.G104G:p.S35S 1q22 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
123 1 156114921 G T Pathogenic/Likely pathogenic LMNA . . . . . . . . . . 1 156114921 156114921 G T exonic LMNA . nonsynonymous SNV LMNA:NM_001282626:exon1:c.G3T:p.M1I,LMNA:NM_005572:exon1:c.G3T:p.M1I,LMNA:NM_170707:exon1:c.G3T:p.M1I,LMNA:NM_170708:exon1:c.G3T:p.M1I,LMNA:NM_001282625:exon4:c.G3T:p.M1I 1q22 . rs794728598 0.0 D 0.838 P 0.429 B 0.000 D 1 D . . -1.91 D -1.64 N 0.817 5.981 27.8 0.997 0.949 D 0.084 D 0.473 T 0.733 0 4.81 0.917 0.974 1.000 1.000 15.407 Tolerated
124 1 156115162 G A Pathogenic LMNA . . . . . . . . . . 1 156115162 156115162 G A exonic LMNA . nonsynonymous SNV LMNA:NM_001282626:exon1:c.G244A:p.E82K,LMNA:NM_005572:exon1:c.G244A:p.E82K,LMNA:NM_170707:exon1:c.G244A:p.E82K,LMNA:NM_170708:exon1:c.G244A:p.E82K,LMNA:NM_001282625:exon4:c.G244A:p.E82K 1q22 . rs59270054 0.0 D 1.0 D 0.999 D 0.000 D 1 D 3.18 M -1.78 D -3.65 D 0.966 7.305 34 0.999 0.985 D 0.935 D 0.864 D 0.733 0 4.77 0.917 0.974 1.000 1.000 15.339 Deleterious
125 1 156134457 C T Pathogenic LMNA . . . . . . . . . . 1 156134457 156134457 C T exonic LMNA . nonsynonymous SNV LMNA:NM_001257374:exon3:c.C232T:p.R78W,LMNA:NM_001282626:exon3:c.C568T:p.R190W,LMNA:NM_005572:exon3:c.C568T:p.R190W,LMNA:NM_170707:exon3:c.C568T:p.R190W,LMNA:NM_170708:exon3:c.C568T:p.R190W,LMNA:NM_001282624:exon4:c.C325T:p.R109W,LMNA:NM_001282625:exon6:c.C568T:p.R190W 1q22 . rs59026483 0.0 D 1.0 D 1.0 D 0.000 D 1 D 2.71 M -2.9 D -6.76 D 0.975 7.709 35 0.999 0.873 D 0.899 D 0.861 D 0.707 0 4.44 -0.058 0.935 0.989 1.000 14.493 Deleterious
126 1 156134474 C G Pathogenic LMNA . . . . . . . . . . 1 156134474 156134474 C G exonic LMNA . nonsynonymous SNV LMNA:NM_001257374:exon3:c.C249G:p.N83K,LMNA:NM_001282626:exon3:c.C585G:p.N195K,LMNA:NM_005572:exon3:c.C585G:p.N195K,LMNA:NM_170707:exon3:c.C585G:p.N195K,LMNA:NM_170708:exon3:c.C585G:p.N195K,LMNA:NM_001282624:exon4:c.C342G:p.N114K,LMNA:NM_001282625:exon6:c.C585G:p.N195K 1q22 . rs28933091 0.001 D 1.0 D 1.0 D 0.000 D 1 D 2.015 M -1.46 T -5.37 D 0.419 6.382 29.5 0.999 0.936 D 0.688 D 0.774 D 0.707 0 5.44 0.871 0.935 1.000 1.000 16.758 Deleterious
127 1 156134496 G A Pathogenic LMNA . . . . . . . . . . 1 156134496 156134496 G A exonic LMNA . nonsynonymous SNV LMNA:NM_001257374:exon3:c.G271A:p.E91K,LMNA:NM_001282626:exon3:c.G607A:p.E203K,LMNA:NM_005572:exon3:c.G607A:p.E203K,LMNA:NM_170707:exon3:c.G607A:p.E203K,LMNA:NM_170708:exon3:c.G607A:p.E203K,LMNA:NM_001282624:exon4:c.G364A:p.E122K,LMNA:NM_001282625:exon6:c.G607A:p.E203K 1q22 . rs61195471 0.057 T 0.994 D 0.98 D 0.000 D 1 D 2.805 M -3.15 D -2.68 D 0.992 6.769 32 0.999 0.978 D 0.933 D 0.887 D 0.707 0 5.44 0.917 1.048 1.000 1.000 16.758 Deleterious
128 1 156134838 C T Pathogenic LMNA . . . . . . . . . . 1 156134838 156134838 C T exonic LMNA . stopgain LMNA:NM_001257374:exon4:c.C337T:p.R113X,LMNA:NM_001282626:exon4:c.C673T:p.R225X,LMNA:NM_005572:exon4:c.C673T:p.R225X,LMNA:NM_170707:exon4:c.C673T:p.R225X,LMNA:NM_170708:exon4:c.C673T:p.R225X,LMNA:NM_001282624:exon5:c.C430T:p.R144X,LMNA:NM_001282625:exon7:c.C673T:p.R225X 1q22 . rs60682848 . . . . . . 0.000 D 1 A . . . . . . . 12.138 38 0.997 0.969 D . . . . 0.707 0 5.27 0.871 0.852 0.938 0.549 16.360 Deleterious (FATHMM)
129 1 156134910 C T Pathogenic LMNA . . . . . . . . . . 1 156134910 156134910 C T exonic LMNA . nonsynonymous SNV LMNA:NM_001257374:exon4:c.C409T:p.R137W,LMNA:NM_001282626:exon4:c.C745T:p.R249W,LMNA:NM_005572:exon4:c.C745T:p.R249W,LMNA:NM_170707:exon4:c.C745T:p.R249W,LMNA:NM_170708:exon4:c.C745T:p.R249W,LMNA:NM_001282624:exon5:c.C502T:p.R168W,LMNA:NM_001282625:exon7:c.C745T:p.R249W 1q22 . rs121912496 0.0 D 1.0 D 1.0 D 0.000 D 1 A 3.395 M -3.23 D -7.38 D 0.962 7.270 34 0.999 0.847 D 1.014 D 0.894 D 0.707 0 3.46 0.871 0.065 0.998 0.997 12.156 Deleterious
130 1 156134911 G A Pathogenic LMNA . . . . . . . . . . 1 156134911 156134911 G A exonic LMNA . nonsynonymous SNV LMNA:NM_001257374:exon4:c.G410A:p.R137Q,LMNA:NM_001282626:exon4:c.G746A:p.R249Q,LMNA:NM_005572:exon4:c.G746A:p.R249Q,LMNA:NM_170707:exon4:c.G746A:p.R249Q,LMNA:NM_170708:exon4:c.G746A:p.R249Q,LMNA:NM_001282624:exon5:c.G503A:p.R168Q,LMNA:NM_001282625:exon7:c.G746A:p.R249Q 1q22 . rs59332535 0.002 D 1.0 D 0.999 D 0.000 D 1 D 2.73 M -3.09 D -3.66 D 0.93 7.168 34 1.000 0.967 D 0.889 D 0.847 D 0.707 0 4.33 0.917 0.953 0.999 0.999 13.413 Deleterious
131 1 156134964 T C Pathogenic LMNA . . . . . . . . . . 1 156134964 156134964 T C exonic LMNA . nonsynonymous SNV LMNA:NM_001257374:exon4:c.T463C:p.Y155H,LMNA:NM_001282626:exon4:c.T799C:p.Y267H,LMNA:NM_005572:exon4:c.T799C:p.Y267H,LMNA:NM_170707:exon4:c.T799C:p.Y267H,LMNA:NM_170708:exon4:c.T799C:p.Y267H,LMNA:NM_001282624:exon5:c.T556C:p.Y186H,LMNA:NM_001282625:exon7:c.T799C:p.Y267H 1q22 . rs267607593 0.0 D 1.0 D 0.998 D 0.000 D 1 D 2.945 M -3.36 D -4.23 D 0.985 5.845 27.3 0.998 0.957 D 1.004 D 0.890 D 0.707 0 5.58 0.991 1.061 0.995 0.757 13.696 Deleterious
132 1 156135925 C T Pathogenic LMNA . . . . . . . . . . 1 156135925 156135925 C T exonic LMNA . stopgain LMNA:NM_001257374:exon6:c.C625T:p.R209X,LMNA:NM_001282626:exon6:c.C961T:p.R321X,LMNA:NM_005572:exon6:c.C961T:p.R321X,LMNA:NM_170707:exon6:c.C961T:p.R321X,LMNA:NM_170708:exon6:c.C961T:p.R321X,LMNA:NM_001282624:exon7:c.C718T:p.R240X,LMNA:NM_001282625:exon9:c.C961T:p.R321X 1q22 . rs267607554 . . . . . . 0.000 D 1 A . . . . . . . 11.561 37 0.998 0.944 D . . . . 0.707 0 2.63 0.871 0.935 0.991 0.998 13.294 Deleterious (FATHMM)
133 1 156136021 C T Pathogenic/Likely pathogenic LMNA . . . . . . . . . . 1 156136021 156136021 C T exonic LMNA . stopgain LMNA:NM_001257374:exon6:c.C721T:p.Q241X,LMNA:NM_001282626:exon6:c.C1057T:p.Q353X,LMNA:NM_005572:exon6:c.C1057T:p.Q353X,LMNA:NM_170707:exon6:c.C1057T:p.Q353X,LMNA:NM_170708:exon6:c.C1057T:p.Q353X,LMNA:NM_001282624:exon7:c.C814T:p.Q272X,LMNA:NM_001282625:exon9:c.C1057T:p.Q353X 1q22 . rs267607623 . . . . . . 0.000 D 1 A . . . . . . . 12.983 40 0.998 0.971 D . . . . 0.707 0 5.74 0.871 0.935 1.000 1.000 17.401 Deleterious (FATHMM)
134 1 156136093 C T Pathogenic/Likely pathogenic LMNA . . . . . . . . . . 1 156136093 156136093 C T exonic LMNA . nonsynonymous SNV LMNA:NM_001257374:exon6:c.C793T:p.R265C,LMNA:NM_001282626:exon6:c.C1129T:p.R377C,LMNA:NM_005572:exon6:c.C1129T:p.R377C,LMNA:NM_170707:exon6:c.C1129T:p.R377C,LMNA:NM_170708:exon6:c.C1129T:p.R377C,LMNA:NM_001282624:exon7:c.C886T:p.R296C,LMNA:NM_001282625:exon9:c.C1129T:p.R377C 1q22 . rs397517889 0.001 D 1.0 D 1.0 D 0.000 D 1 D 3.265 M -3.53 D -7.0 D 0.974 7.562 34 0.999 0.909 D 1.058 D 0.925 D 0.707 0 5.3 0.871 0.935 0.997 0.998 16.787 Deleterious
135 1 156136110 C T Pathogenic/Likely pathogenic, not provided LMNA . . . . . . . . . . 1 156136110 156136110 C T exonic LMNA . synonymous SNV LMNA:NM_001257374:exon6:c.C810T:p.G270G,LMNA:NM_001282626:exon6:c.C1146T:p.G382G,LMNA:NM_005572:exon6:c.C1146T:p.G382G,LMNA:NM_170707:exon6:c.C1146T:p.G382G,LMNA:NM_170708:exon6:c.C1146T:p.G382G,LMNA:NM_001282624:exon7:c.C903T:p.G301G,LMNA:NM_001282625:exon9:c.C1146T:p.G382G 1q22 . rs57508089 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
136 1 156136350 C T Pathogenic/Likely pathogenic, not provided LMNA . . . . . . . . . . 1 156136350 156136350 C T exonic LMNA . stopgain LMNA:NM_001257374:exon7:c.C958T:p.Q320X,LMNA:NM_001282626:exon7:c.C1294T:p.Q432X,LMNA:NM_005572:exon7:c.C1294T:p.Q432X,LMNA:NM_170707:exon7:c.C1294T:p.Q432X,LMNA:NM_170708:exon7:c.C1294T:p.Q432X,LMNA:NM_001282624:exon8:c.C1051T:p.Q351X,LMNA:NM_001282625:exon10:c.C1294T:p.Q432X 1q22 . rs267607618 . . . . . . 0.000 D 1 A . . . . . . . 13.047 41 0.998 0.975 D . . . . 0.719 0 5.74 0.871 0.852 0.994 0.868 17.423 Deleterious (FATHMM)
137 1 156136413 C T Pathogenic/Likely pathogenic, not provided LMNA . . . . . . . . . . 1 156136413 156136413 C T exonic LMNA . nonsynonymous SNV LMNA:NM_001257374:exon7:c.C1021T:p.R341W,LMNA:NM_001282626:exon7:c.C1357T:p.R453W,LMNA:NM_005572:exon7:c.C1357T:p.R453W,LMNA:NM_170707:exon7:c.C1357T:p.R453W,LMNA:NM_170708:exon7:c.C1357T:p.R453W,LMNA:NM_001282624:exon8:c.C1114T:p.R372W,LMNA:NM_001282625:exon10:c.C1357T:p.R453W 1q22 . rs58932704 0.0 D 1.0 D 0.996 D 0.000 D 1 A 2.79 M -4.91 D -5.82 D 0.971 8.077 35 0.999 0.934 D 1.108 D 0.966 D 0.707 0 5.74 0.871 0.852 0.999 0.996 17.423 Deleterious
138 1 156137207 C A Pathogenic/Likely pathogenic, not provided LMNA . . . . . . . . . . 1 156137207 156137207 C A exonic LMNA . nonsynonymous SNV LMNA:NM_001257374:exon9:c.C1247A:p.T416K,LMNA:NM_001282626:exon9:c.C1583A:p.T528K,LMNA:NM_005572:exon9:c.C1583A:p.T528K,LMNA:NM_170707:exon9:c.C1583A:p.T528K,LMNA:NM_170708:exon9:c.C1583A:p.T528K,LMNA:NM_001282624:exon10:c.C1340A:p.T447K,LMNA:NM_001282625:exon12:c.C1583A:p.T528K 1q22 . rs57629361 0.003 D 1.0 D 0.999 D 0.000 D 1 D 3.495 M -5.04 D -3.9 D 0.978 7.115 34 0.995 0.965 D 1.081 D 0.974 D 0.672 0 4.68 0.871 0.935 0.995 0.980 11.499 Deleterious
139 1 156137653 G A Pathogenic/Likely pathogenic LMNA . . . . . . . . . . 1 156137653 156137653 G A splicing LMNA NM_001282625:exon13:c.1609-1G>A,NM_170707:exon10:c.1609-1G>A,NM_005572:exon10:c.1609-1G>A,NM_001282626:exon10:c.1609-1G>A,NM_001282624:exon11:c.1366-1G>A,NM_001257374:exon10:c.1273-1G>A . . 1q22 . rs111569862 . . . . . . . . 1 D . . . . . . . 4.498 24.3 0.995 0.978 D . . . . 0.257 0 5.6 0.917 1.048 0.820 0.918 17.100 Deleterious (FATHMM)
140 1 156137666 C T Pathogenic LMNA . . . . . . . . . . 1 156137666 156137666 C T exonic LMNA . nonsynonymous SNV LMNA:NM_001257374:exon10:c.C1285T:p.R429C,LMNA:NM_001282626:exon10:c.C1621T:p.R541C,LMNA:NM_005572:exon10:c.C1621T:p.R541C,LMNA:NM_170707:exon10:c.C1621T:p.R541C,LMNA:NM_001282624:exon11:c.C1378T:p.R460C,LMNA:NM_001282625:exon13:c.C1621T:p.R541C 1q22 . rs56984562 0.0 D 1.0 D 0.999 D 0.000 D 1 D 2.975 M -4.86 D -6.16 D 0.972 7.868 35 0.999 0.885 D 1.083 D 0.961 D 0.706 0 4.63 0.871 0.935 1.000 1.000 10.872 Deleterious
141 1 156138613 C T Pathogenic LMNA . . . . . . . . . . 1 156138613 156138613 C T exonic LMNA . synonymous SNV LMNA:NM_170708:exon10:c.C1734T:p.G578G,LMNA:NM_001257374:exon11:c.C1488T:p.G496G,LMNA:NM_170707:exon11:c.C1824T:p.G608G 1q22 . rs58596362 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
142 1 161306426 G C Pathogenic/Likely pathogenic MPZ . . . . . . . . . . 1 161306426 161306426 G C exonic MPZ . synonymous SNV MPZ:NM_000530:exon4:c.G487G:p.G163G 1q23.3 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
143 1 161306722 A C Pathogenic MPZ . . . . . . . . . . 1 161306722 161306722 A C exonic MPZ . nonsynonymous SNV MPZ:NM_000530:exon3:c.A434G:p.Y145C 1q23.3 . . 0.038 D 0.972 D 0.717 P 0.001 N 1 D 0.895 L -0.18 T -2.37 N 0.754 4.296 24.0 0.998 0.815 D -0.845 T 0.151 T 0.658 0 4.93 0.991 1.042 0.997 0.998 12.578 Tolerated
144 1 161306863 G A Pathogenic MPZ . . . . . . . . . . 1 161306863 161306863 G A exonic MPZ . nonsynonymous SNV MPZ:NM_000530:exon3:c.G293T:p.R98L 1q23.3 . . 0.0 D 1.0 D 0.999 D 0.000 D 1 D 3.23 M -0.66 T -6.43 D 0.988 7.460 34 0.999 0.944 D 0.294 D 0.558 D 0.560 0 4.7 0.871 0.935 0.998 0.999 15.179 Deleterious
145 1 161306864 C T Pathogenic MPZ . . . . . . . . . . 1 161306864 161306864 C T exonic MPZ . nonsynonymous SNV MPZ:NM_000530:exon3:c.C292A:p.R98S 1q23.3 . . 0.0 D 1.0 D 1.0 D 0.000 D 1 D 3.23 M -0.54 T -5.44 D 0.996 6.347 29.4 0.998 0.725 D 0.170 D 0.523 D 0.560 0 3.71 -0.045 1.048 0.997 1.000 11.813 Deleterious
146 1 161307259 C T Pathogenic MPZ . . . . . . . . . . 1 161307259 161307259 C T exonic MPZ . stopgain MPZ:NM_000530:exon2:c.C233A:p.S78X 1q23.3 . . . . . . . . 0.000 D 1 A . . . . . . . 12.995 40 0.995 0.914 D . . . . 0.653 0 5.36 0.917 1.048 0.954 0.998 16.57 Deleterious (FATHMM)
147 1 161307376 A C Pathogenic MPZ . . . . . . . . . . 1 161307376 161307376 A C exonic MPZ . nonsynonymous SNV MPZ:NM_000530:exon2:c.A116G:p.H39R 1q23.3 . rs371856018 0.154 T 0.636 P 0.299 B 0.000 D 1 D 0.635 N -0.06 T -1.96 N 0.414 1.688 14.34 0.978 0.776 D -1.000 T 0.086 T 0.653 0 5.29 0.991 1.061 0.995 0.999 13.178 Tolerated
170 1 215674781 C A Pathogenic/Likely pathogenic USH2A . . . . . . . . . . 1 215674781 215674781 C A exonic USH2A . nonsynonymous SNV USH2A:NM_206933:exon63:c.C13130T:p.S4377L 1q41 . . 0.009 D 0.028 B 0.027 B 0.058 U 0.953 N 1.655 L 0.3 T -2.29 N 0.127 3.212 22.7 0.998 0.960 D -0.966 T 0.149 T 0.487 0 3.12 0.917 0.998 0.541 0.510 9.875 Tolerated
171 1 215680378 A G Pathogenic USH2A . . . . . . . . . . 1 215680378 215680378 A G splicing USH2A NM_206933:exon62:c.12067-2T>C . . 1q41 . . . . . . . . . . 1 D . . . . . . . 4.368 24.1 0.992 0.994 D . . . . 0.061 0 5.26 0.991 1.061 0.949 0.956 15.186 Deleterious (FATHMM)
172 1 215728232 G A Pathogenic USH2A . . . . . . . . . . 1 215728232 215728232 G A exonic USH2A . nonsynonymous SNV USH2A:NM_206933:exon61:c.G11864T:p.W3955L 1q41 . . 0.012 D 1.0 D 0.997 D 0.001 D 1 D 3.02 M 0.67 T -8.8 D 0.669 6.597 31 0.985 0.991 D -0.483 T 0.344 T 0.487 0 5.53 0.871 0.892 0.321 0.246 19.456 Tolerated
173 1 215790168 G A Pathogenic USH2A . . . . . . . . . . 1 215790168 215790168 G A exonic USH2A . nonsynonymous SNV USH2A:NM_206933:exon51:c.G10073T:p.C3358F 1q41 . . 0.0 D 1.0 D 0.998 D 0.000 D 1 D 2.535 M 0.97 T -7.89 D 0.891 6.867 33 0.989 0.988 D -0.439 T 0.309 T 0.487 0 5.76 0.871 0.935 1.000 1.000 19.976 Tolerated
174 1 215877882 A G Pathogenic USH2A . . . . . . . . . . 1 215877882 215877882 A G splicing USH2A NM_206933:exon43:c.8559-2T>C . . 1q41 . . . . . . . . . . 1 D . . . . . . . 5.101 25.3 0.995 0.981 D . . . . 0.054 0 5.9 0.991 1.061 1.000 1.000 16.316 Deleterious (FATHMM)
175 1 216073096 G A Pathogenic USH2A|LOC102723833 . . . . . . . . . . 1 216073096 216073096 G A splicing USH2A NM_206933:exon28:c.5776+1C>T . . 1q41 . . . . . . . . . . 1 D . . . . . . . 6.089 28.2 0.995 0.991 D . . . . 0.061 0 6.03 0.871 0.935 0.995 0.998 20.567 Deleterious (FATHMM)
176 1 216247185 C T Pathogenic USH2A . . . . . . . . . . 1 216247185 216247185 C T exonic USH2A . synonymous SNV USH2A:NM_007123:exon13:c.C2209A:p.R737R,USH2A:NM_206933:exon13:c.C2209A:p.R737R 1q41 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
177 1 216289412 A G Pathogenic USH2A . . . . . . . . . . 1 216289412 216289412 A G splicing USH2A NM_206933:exon11:c.1841-2T>C,NM_007123:exon11:c.1841-2T>C . . 1q41 . . . . . . . . . . 1 D . . . . . . . 4.917 25.0 0.995 0.982 D . . . . 0.061 0 5.43 0.991 1.061 0.693 0.994 15.785 Deleterious (FATHMM)
178 1 216324240 G T Pathogenic USH2A . . . . . . . . . . 1 216324240 216324240 G T exonic USH2A . nonsynonymous SNV USH2A:NM_007123:exon7:c.G1256A:p.C419Y,USH2A:NM_206933:exon7:c.G1256A:p.C419Y 1q41 . . 0.0 D 1.0 D 1.0 D 0.005 N 1 D 3.28 M -0.03 T -7.5 D 0.973 6.694 32 0.998 0.989 D 0.296 D 0.554 D 0.487 0 5.42 0.871 0.935 0.995 0.989 19.195 Deleterious
179 1 216325499 C A Pathogenic USH2A . . . . . . . . . . 1 216325499 216325499 C A exonic USH2A . nonsynonymous SNV USH2A:NM_007123:exon6:c.C949T:p.R317W,USH2A:NM_206933:exon6:c.C949T:p.R317W 1q41 . . 0.003 D 1.0 D 0.989 D 0.030 N 0.997 D 2.39 M 2.41 T -4.19 D 0.449 5.826 27.2 0.999 0.830 D -0.888 T 0.133 T 0.487 0 1.9 0.917 1.048 0.996 0.549 13.102 Tolerated
180 1 218436110 C T Pathogenic/Likely pathogenic TGFB2 . . . . . . . . . . 1 218436110 218436110 C T exonic TGFB2 . nonsynonymous SNV TGFB2:NM_003238:exon5:c.C895T:p.R299W,TGFB2:NM_001135599:exon6:c.C979T:p.R327W 1q41 . rs863223792 0.001 D 1.0 D 1.0 D 0.000 D 1 D 1.995 M -1.15 T -5.71 D 0.925 8.104 35 0.999 0.963 D 0.193 D 0.595 D 0.732 0 6.17 0.871 0.935 0.999 1.000 15.581 Deleterious
181 1 218436119 C T Pathogenic/Likely pathogenic TGFB2 . . . . . . . . . . 1 218436119 218436119 C T exonic TGFB2 . nonsynonymous SNV TGFB2:NM_003238:exon5:c.C904T:p.R302C,TGFB2:NM_001135599:exon6:c.C988T:p.R330C 1q41 . . 0.001 D 1.0 D 1.0 D 0.000 D 1 D 1.995 M -1.22 T -5.56 D 0.931 7.710 35 0.999 0.924 D 0.193 D 0.595 D 0.732 0 6.17 0.871 0.935 0.998 1.000 15.581 Deleterious
182 1 236895470 C T Pathogenic/Likely pathogenic MTR . . . . . . . . . . 1 236895470 236895470 C T exonic MTR . nonsynonymous SNV MTR:NM_001291939:exon30:c.C3365T:p.P1122L,MTR:NM_001291940:exon30:c.C2297T:p.P766L,MTR:NM_000254:exon31:c.C3518T:p.P1173L 1q43 0.0003 rs121913578 0.0 D 1.0 D 1.0 D 0.000 D 1 A 3.355 M -1.31 T -9.65 D 0.947 7.728 35 0.999 0.991 D 0.711 D 0.763 D 0.732 0 5.57 0.871 0.892 0.993 0.920 19.554 Deleterious
183 1 237377365 G A Pathogenic/Likely pathogenic RYR2 . . . . . . . . . . 1 237377365 237377365 G A exonic RYR2 . nonsynonymous SNV RYR2:NM_001035:exon8:c.G506A:p.R169Q 1q43 . rs397516539 0.0 D 0.999 D 0.833 P 0.000 D 1.000 D 2.885 M -5.21 D -3.01 D 0.939 6.024 27.9 1.000 0.981 D 1.101 D 0.967 D 0.554 0 5.17 0.917 1.048 0.991 0.997 17.812 Deleterious
184 1 237377386 G A Pathogenic RYR2 . . . . . . . . . . 1 237377386 237377386 G A exonic RYR2 . nonsynonymous SNV RYR2:NM_001035:exon8:c.G527A:p.R176Q 1q43 . rs794728708 0.0 D 0.999 D 0.874 P 0.000 D 0.999 D 2.81 M -4.92 D -3.01 D 0.82 5.288 25.7 1.000 0.979 D 1.103 D 0.962 D 0.554 0 5.17 0.917 1.048 0.992 0.306 17.812 Deleterious
185 1 237445488 C T Pathogenic RYR2 . . . . . . . . . . 1 237445488 237445488 C T exonic RYR2 . nonsynonymous SNV RYR2:NM_001035:exon14:c.C1258T:p.R420W 1q43 . rs190140598 0.001 D 1.0 D 0.895 P 0.000 D 1.000 D 2.18 M -4.3 D -4.15 D 0.949 7.169 34 0.999 0.941 D 1.028 D 0.927 D 0.487 0 5.84 0.871 0.892 0.975 0.990 13.356 Deleterious
186 1 237638480 G A Pathogenic RYR2 . . . . . . . . . . 1 237638480 237638480 G A exonic RYR2 . nonsynonymous SNV RYR2:NM_001035:exon45:c.G6916A:p.V2306I 1q43 . rs794728746 0.061 T 1.0 D 0.998 D 0.000 D 1.000 D 2.075 M -3.94 D -0.91 N 0.846 6.735 32 0.998 0.995 D 1.033 D 0.916 D 0.554 0 5.31 0.917 0.940 0.998 0.998 19.348 Deleterious
187 1 237640983 G A Pathogenic/Likely pathogenic RYR2 . . . . . . . . . . 1 237640983 237640983 G A exonic RYR2 . nonsynonymous SNV RYR2:NM_001035:exon47:c.G7202A:p.R2401H 1q43 . rs794728756 0.001 D 1.0 D 0.998 D 0.000 D 1.000 D 2.73 M -5.76 D -4.56 D 0.926 7.701 35 0.999 0.989 D 1.066 D 0.980 D 0.554 0 4.66 0.917 0.998 0.993 0.785 15.949 Deleterious
188 1 237808913 G A Pathogenic/Likely pathogenic RYR2 . . . . . . . . . . 1 237808913 237808913 G A exonic RYR2 . nonsynonymous SNV RYR2:NM_001035:exon100:c.G14311A:p.V4771I 1q43 . rs794728804 0.129 T 0.999 D 0.984 D 0.000 U 1.000 D 1.9 L -4.92 D -0.87 N 0.826 5.432 26.1 0.998 0.991 D 1.084 D 0.953 D 0.554 0 4.88 0.917 0.953 0.994 0.714 18.388 Deleterious
189 1 241500572 T C Pathogenic/Likely pathogenic FH . . . . . . . . . . 1 241500572 241500572 T C exonic FH . nonsynonymous SNV FH:NM_000143:exon9:c.T1255G:p.S419A 1q43 . . 0.0 D 0.997 D 0.997 D 0.000 D 1 D 3.445 M -4.11 D -2.97 D 0.721 6.326 29.3 0.997 0.942 D 1.098 D 0.951 D 0.744 0 5.71 1.062 1.199 0.998 1.000 13.933 Deleterious
190 1 241504057 A G Pathogenic/Likely pathogenic FH . . . . . . . . . . 1 241504057 241504057 A G exonic FH . nonsynonymous SNV FH:NM_000143:exon7:c.A1093C:p.S365R 1q43 . . 0.0 D 1.0 D 1.0 D 0.000 D 1 D 4.77 H -10.15 D -4.98 D 0.945 6.600 31 0.998 0.973 D 1.133 D 1.000 D 0.707 0 5.73 0.991 1.061 0.998 0.997 13.970 Deleterious
191 1 241504083 T A Pathogenic/Likely pathogenic FH . . . . . . . . . . 1 241504083 241504083 T A exonic FH . synonymous SNV FH:NM_000143:exon7:c.T1067T:p.L356L 1q43 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
192 1 241504123 C T Pathogenic FH . . . . . . . . . . 1 241504123 241504123 C T exonic FH . synonymous SNV FH:NM_000143:exon7:c.C1027A:p.R343R 1q43 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
193 1 241504198 C T Pathogenic/Likely pathogenic FH . . . . . . . . . . 1 241504198 241504198 C T exonic FH . nonsynonymous SNV FH:NM_000143:exon7:c.C952A:p.H318N 1q43 . . 0.076 T 0.019 B 0.121 B 0.000 D 1 D 2.19 M -6.32 D -5.09 D 0.673 3.469 23.0 0.989 0.993 D 1.028 D 0.968 D 0.707 0 5.73 0.917 1.048 0.999 0.992 17.394 Deleterious
194 1 241508643 G A Pathogenic FH . . . . . . . . . . 1 241508643 241508643 G A exonic FH . nonsynonymous SNV FH:NM_000143:exon5:c.G698T:p.R233L 1q43 . rs121913123 0.0 D 1.0 D 1.0 D 0.000 D 1 D 4.765 H -6.46 D -6.84 D 0.996 8.060 35 0.999 0.993 D 0.927 D 0.995 D 0.722 0 5.65 0.871 0.935 0.976 0.871 17.578 Deleterious
195 1 241508644 C T Pathogenic FH . . . . . . . . . . 1 241508644 241508644 C T exonic FH . nonsynonymous SNV FH:NM_000143:exon5:c.C697A:p.R233S 1q43 . . 0.0 D 1.0 D 1.0 D 0.000 D 1 D 4.765 H -6.48 D -5.86 D 0.988 7.336 34 0.998 0.995 D 0.927 D 0.995 D 0.722 0 5.65 0.917 1.048 0.978 0.880 17.578 Deleterious
196 1 241513661 A C Pathogenic FH . . . . . . . . . . 1 241513661 241513661 A C exonic FH . nonsynonymous SNV FH:NM_000143:exon3:c.A320G:p.N107S 1q43 . . 0.005 D 1.0 D 0.997 D 0.000 D 1 D 4.07 H -6.19 D -4.65 D 0.412 3.293 22.8 0.998 0.956 D 0.975 D 0.991 D 0.737 0 5.85 0.991 1.061 1.000 1.000 14.194 Deleterious
197 1 241513680 C T Pathogenic FH . . . . . . . . . . 1 241513680 241513680 C T exonic FH . synonymous SNV FH:NM_000143:exon3:c.C301A:p.R101R 1q43 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
198 2 21006289 C T Pathogenic/Likely pathogenic APOB . . . . . . . . . . 2 21006289 21006289 C T exonic APOB . synonymous SNV APOB:NM_000384:exon26:c.C10579A:p.R3527R 2p24.1 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
199 2 26195184 G C Pathogenic HADHA|GAREM2 . . . . . . . . . . 2 26195184 26195184 G C exonic HADHA . synonymous SNV HADHA:NM_000182:exon15:c.G1528G:p.E510E 2p23.3 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
200 2 26212628 A G Pathogenic HADHA . . . . . . . . . . 2 26212628 26212628 A G splicing HADHA NM_000182:exon10:c.919-2T>C . . 2p23.3 . . . . . . . . . . 1 D . . . . . . . 4.244 23.9 0.992 0.846 D . . . . 0.099 0 5.32 0.991 1.061 0.997 0.955 14.398 Deleterious (FATHMM)
201 2 26238931 A G Pathogenic HADHA . . . . . . . . . . 2 26238931 26238931 A G intronic HADHA . . . 2p23.3 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . probably Tolerated (Intron)
202 2 26238957 C T Pathogenic HADHA . . . . . . . . . . 2 26238957 26238957 C T exonic HADHA . synonymous SNV HADHA:NM_000182:exon3:c.C157A:p.R53R 2p23.3 7.7e-05 rs147103714 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
203 2 26477210 C T Pathogenic, association OTOF . . . . . . . . . . 2 26477210 26477210 C T exonic OTOF . nonsynonymous SNV OTOF:NM_194322:exon3:c.C415A:p.Q139K,OTOF:NM_004802:exon4:c.C244A:p.Q82K,OTOF:NM_194323:exon4:c.C244A:p.Q82K,OTOF:NM_001287489:exon21:c.C2485A:p.Q829K,OTOF:NM_194248:exon21:c.C2485A:p.Q829K 2p23.3 . . 0.459 T 0.003 B 0.003 B 0.000 D 0.998 D 1.82 L -1.04 T -2.73 D 0.362 2.116 16.96 0.966 0.925 D -0.382 T 0.424 T 0.554 0 5.0 0.917 0.933 0.992 1.000 16.870 Tolerated
204 2 26477725 G T Pathogenic OTOF . . . . . . . . . . 2 26477725 26477725 G T exonic OTOF . nonsynonymous SNV OTOF:NM_194322:exon1:c.G169A:p.E57K,OTOF:NM_001287489:exon19:c.G2239A:p.E747K,OTOF:NM_194248:exon19:c.G2239A:p.E747K 2p23.3 . . 0.426 T 0.995 D 0.919 D 0.000 D 1 D 1.965 M -1.1 T -2.01 N 0.907 4.063 23.7 0.999 0.994 D -0.086 T 0.566 D 0.554 0 4.83 0.871 0.852 0.996 1.000 17.507 Deleterious
205 2 27312576 C T Pathogenic MPV17 . . . . . . . . . . 2 27312576 27312576 C T exonic MPV17 . nonsynonymous SNV MPV17:NM_002437:exon5:c.C293A:p.P98Q 2p23.3 . . 0.0 D 1.0 D 1.0 D 0.000 D 1 D 3.87 H -3.04 D -7.33 D 0.764 5.857 27.3 0.991 0.969 D 1.078 D 0.961 D 0.732 0 4.57 0.917 0.143 1.000 0.979 10.040 Deleterious
206 2 32127017 A G Pathogenic SPAST . . . . . . . . . . 2 32127017 32127017 A G exonic SPAST . nonsynonymous SNV SPAST:NM_199436:exon7:c.A1072G:p.M358V,SPAST:NM_014946:exon8:c.A1168G:p.M390V 2p22.3 . rs797044850 0.007 D 0.941 P 0.779 P 0.000 D 1 D 1.725 L -3.54 D -2.47 N 0.964 5.419 26.0 0.995 0.986 D 0.885 D 0.851 D 0.706 0 5.69 1.062 1.199 0.998 1.000 15.611 Deleterious
207 2 38075218 G A Pathogenic/Likely pathogenic CYP1B1 . . . . . . . . . . 2 38075218 38075218 G A exonic CYP1B1 . nonsynonymous SNV CYP1B1:NM_000104:exon2:c.G171T:p.W57C 2p22.2 . . . . 1.0 D 0.999 D 0.000 D 1 D 3.48 M . . . . 0.947 5.550 26.4 0.987 0.842 D 0.366 D 0.570 D 0.598 0 4.22 0.871 0.888 0.875 0.743 14.141 Deleterious
208 2 39007168 G A Pathogenic SOS1 . . . . . . . . . . 2 39007168 39007168 G A exonic SOS1 . stopgain SOS1:NM_005633:exon16:c.G2536T:p.E846X 2p22.1 . . . . . . . . 0.000 D 1 A . . . . . . . 13.582 42 0.998 0.993 D . . . . 0.732 0 5.65 0.871 0.919 1.000 1.000 19.715 Deleterious (FATHMM)
209 2 39022772 G T Pathogenic SOS1 . . . . . . . . . . 2 39022772 39022772 G T exonic SOS1 . synonymous SNV SOS1:NM_005633:exon10:c.G1656A:p.R552R 2p22.1 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
210 2 39022772 G C Pathogenic SOS1 . . . . . . . . . . 2 39022772 39022772 G C exonic SOS1 . synonymous SNV SOS1:NM_005633:exon10:c.G1656G:p.R552R 2p22.1 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
211 2 39022773 G A Pathogenic SOS1 . . . . . . . . . . 2 39022773 39022773 G A exonic SOS1 . nonsynonymous SNV SOS1:NM_005633:exon10:c.G1655T:p.R552M 2p22.1 . . 0.0 D 1.0 D 1.0 D 0.000 D 1 D 2.78 M -2.43 D -5.67 D 0.963 6.175 28.6 0.963 0.955 D 0.849 D 0.849 D 0.707 0 5.78 0.871 0.935 0.998 0.998 20.004 Deleterious
212 2 39022773 G C Pathogenic SOS1 . . . . . . . . . . 2 39022773 39022773 G C exonic SOS1 . synonymous SNV SOS1:NM_005633:exon10:c.G1655G:p.R552R 2p22.1 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
213 2 39022774 A G Pathogenic SOS1 . . . . . . . . . . 2 39022774 39022774 A G exonic SOS1 . synonymous SNV SOS1:NM_005633:exon10:c.A1654C:p.R552R 2p22.1 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
214 2 39022786 A C Pathogenic SOS1 . . . . . . . . . . 2 39022786 39022786 A C exonic SOS1 . nonsynonymous SNV SOS1:NM_005633:exon10:c.A1642G:p.S548G 2p22.1 . . 0.012 D 0.995 D 0.921 D 0.000 D 1 D 2.39 M -2.35 D -3.48 D 0.73 2.561 19.86 0.998 0.778 D 0.766 D 0.804 D 0.707 0 5.78 0.991 1.061 0.992 0.936 16.103 Deleterious
215 2 39023106 G A Pathogenic SOS1 . . . . . . . . . . 2 39023106 39023106 G A exonic SOS1 . nonsynonymous SNV SOS1:NM_005633:exon10:c.G1322T:p.C441F 2p22.1 . . 0.001 D 0.999 D 0.98 D 0.000 D 1 D 2.395 M -2.28 D -9.8 D 0.983 6.131 28.4 0.993 0.990 D 0.716 D 0.798 D 0.707 0 5.52 0.871 0.935 0.999 1.000 19.8 Deleterious
216 2 39023118 T C Pathogenic SOS1 . . . . . . . . . . 2 39023118 39023118 T C exonic SOS1 . nonsynonymous SNV SOS1:NM_005633:exon10:c.T1310G:p.I437S 2p22.1 . rs397517150 0.0 D 0.994 D 0.983 D 0.000 D 1 D 2.25 M -2.48 D -4.81 D 0.953 5.509 26.3 0.994 0.992 D 0.782 D 0.807 D 0.707 0 5.52 1.062 1.199 1.000 1.000 15.932 Deleterious
217 2 39023128 G A Pathogenic SOS1 . . . . . . . . . . 2 39023128 39023128 G A exonic SOS1 . stopgain SOS1:NM_005633:exon10:c.G1300T:p.G434X 2p22.1 . . . . . . . . 0.000 D 1 A . . . . . . . 10.939 37 0.992 0.990 D . . . . 0.707 0 5.52 0.871 0.935 1.000 1.000 19.8 Deleterious (FATHMM)
218 2 39023131 G A Pathogenic SOS1 . . . . . . . . . . 2 39023131 39023131 G A exonic SOS1 . stopgain SOS1:NM_005633:exon10:c.G1297T:p.E433X 2p22.1 . . . . . . . . 0.000 D 1 A . . . . . . . 11.271 37 0.998 0.990 D . . . . 0.707 0 5.52 0.871 0.935 1.000 1.000 19.8 Deleterious (FATHMM)
219 2 39023134 T C Pathogenic SOS1 . . . . . . . . . . 2 39023134 39023134 T C exonic SOS1 . nonsynonymous SNV SOS1:NM_005633:exon10:c.T1294G:p.W432G 2p22.1 . . 0.0 D 1.0 D 0.984 D 0.000 D 1 D 2.365 M -2.57 D -12.05 D 0.958 4.988 25.1 0.980 0.992 D 0.800 D 0.813 D 0.707 0 5.52 1.062 1.199 1.000 0.998 15.932 Deleterious
220 2 39035440 G T Pathogenic SOS1 . . . . . . . . . . 2 39035440 39035440 G T exonic SOS1 . nonsynonymous SNV SOS1:NM_005633:exon7:c.G925A:p.D309N 2p22.1 . . 0.41 T 0.005 B 0.014 B 0.000 D 1.000 D 1.32 L -0.03 T -1.49 N 0.065 3.094 22.5 0.999 0.934 D -0.874 T 0.209 T 0.732 0 5.55 0.871 0.935 0.949 0.998 19.505 Tolerated
221 2 39051202 T C Pathogenic SOS1 . . . . . . . . . . 2 39051202 39051202 T C exonic SOS1 . nonsynonymous SNV SOS1:NM_005633:exon6:c.T806G:p.M269R 2p22.1 . rs137852813 0.001 D 0.997 D 0.995 D 0.000 D 1 A 2.495 M -3.04 D -5.05 D 0.984 5.680 26.7 0.985 0.992 D 0.938 D 0.870 D 0.651 0 5.65 1.062 1.199 1.000 1.000 15.541 Deleterious
222 2 39051202 T G Pathogenic SOS1 . . . . . . . . . . 2 39051202 39051202 T G exonic SOS1 . nonsynonymous SNV SOS1:NM_005633:exon6:c.T806C:p.M269T 2p22.1 . rs137852813 0.001 D 0.991 D 0.988 D 0.000 D 1 D 2.15 M -3.01 D -4.59 D 0.987 5.218 25.6 0.987 0.991 D 0.897 D 0.855 D 0.651 0 5.65 1.062 1.199 1.000 1.000 15.541 Deleterious
223 2 39051211 C A Pathogenic SOS1 . . . . . . . . . . 2 39051211 39051211 C A exonic SOS1 . nonsynonymous SNV SOS1:NM_005633:exon6:c.C797T:p.T266I 2p22.1 . . 0.331 T 0.046 B 0.179 B 0.004 N 1.000 D 1.245 L -2.98 D -0.04 N 0.483 4.185 23.8 0.995 0.992 D 0.127 D 0.701 D 0.651 0 5.65 0.917 1.048 0.995 0.999 19.329 Deleterious
224 2 39056704 A G Pathogenic SOS1 . . . . . . . . . . 2 39056704 39056704 A G exonic SOS1 . nonsynonymous SNV SOS1:NM_005633:exon4:c.A508C:p.K170Q 2p22.1 . . 0.023 D 0.998 D 0.995 D 0.000 D 1 D 1.04 L -1.95 D -2.13 N 0.697 2.845 21.6 0.995 0.997 D 0.395 D 0.649 D 0.706 0 5.84 0.991 1.061 1.000 0.998 16.212 Deleterious
225 2 39058696 G A Pathogenic/Likely pathogenic SOS1 . . . . . . . . . . 2 39058696 39058696 G A exonic SOS1 . stopgain SOS1:NM_005633:exon3:c.G322T:p.E108X 2p22.1 . . . . . . . . 0.000 D 1 A . . . . . . . 12.411 39 0.998 0.991 D . . . . 0.706 0 5.9 0.871 0.935 1.000 1.000 20.279 Deleterious (FATHMM)
226 2 43822924 C T Pathogenic/Likely pathogenic DYNC2LI1|ABCG5 . . . . . . . . . . 2 43822924 43822924 C T exonic ABCG5 . synonymous SNV ABCG5:NM_022436:exon10:c.C1336A:p.R446R 2p21 . rs199689137 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
227 2 43872094 G A Pathogenic ABCG8 . . . . . . . . . . 2 43872094 43872094 G A exonic ABCG8 . stopgain ABCG8:NM_022437:exon7:c.G1083A:p.W361X 2p21 0.0010 rs137852987 . . . . . . 0.000 D 1 A . . . . . . . 11.758 38 0.997 0.985 D . . . . 0.487 0 4.9 0.917 1.048 0.979 0.906 18.090 Deleterious (FATHMM)
228 2 43875377 G A Pathogenic/Likely pathogenic ABCG8 . . . . . . . . . . 2 43875377 43875377 G A exonic ABCG8 . nonsynonymous SNV ABCG8:NM_022437:exon11:c.G1720A:p.G574R 2p21 0.0002 rs137852988 0.005 D 1.0 D 0.978 D 0.000 D 0.000 A 2.015 M -0.73 T -4.98 D 0.893 4.146 23.8 0.987 0.963 D 0.030 D 0.455 T 0.487 0 2.77 0.917 0.127 0.229 0.067 10.519 Tolerated
229 2 44312653 T C Pathogenic SLC3A1 . . . . . . . . . . 2 44312653 44312653 T C exonic SLC3A1 . nonsynonymous SNV SLC3A1:NM_000341:exon8:c.T1400C:p.M467T 2p21 0.0021 rs121912691 0.151 T 0.926 P 0.683 P 0.000 D 1 D 0.98 L -5.91 D -3.33 D 0.932 5.267 25.7 0.993 0.982 D 1.101 D 0.955 D 0.476 0 5.82 0.991 0.913 0.997 0.963 16.187 Deleterious
230 2 46950464 G T Pathogenic TTC7A . . . . . . . . . . 2 46950464 46950464 G T exonic TTC7A . stopgain TTC7A:NM_001288951:exon2:c.G286T:p.E96X,TTC7A:NM_020458:exon2:c.G286T:p.E96X,TTC7A:NM_001288953:exon3:c.G184T:p.E62X 2p21 . . . . . . . . 0.103 N 1 A . . . . . . . 11.584 37 0.997 0.937 D . . . . 0.706 0 4.4 -0.044 1.048 0.075 0.858 17.145 Deleterious (FATHMM)
231 2 47412558 C T Pathogenic MSH2 . . . . . . . . . . 2 47412558 47412558 C T exonic MSH2 . stopgain MSH2:NM_000251:exon4:c.C790T:p.Q264X,MSH2:NM_001258281:exon5:c.C592T:p.Q198X 2p21 . . . . . . . . 0.000 D 1 A . . . . . . . 11.551 37 0.998 0.994 D . . . . 0.732 0 5.54 0.871 0.935 0.997 0.990 19.486 Deleterious (FATHMM)
232 2 47783243 C T Pathogenic/Likely pathogenic MSH6 . . . . . . . . . . 2 47783243 47783243 C T exonic MSH6 . stopgain MSH6:NM_000179:exon1:c.C10T:p.Q4X,MSH6:NM_001281492:exon1:c.C10T:p.Q4X 2p16.3 . rs786201042 . . . . . . 0.000 D 1 A . . . . . . . 10.206 36 0.998 0.425 N . . . . 0.442 0 4.11 0.768 0.705 0.996 0.989 15.071 Deleterious (DANN)
233 2 47798972 C A Pathogenic MSH6 . . . . . . . . . . 2 47798972 47798972 C A exonic MSH6 . stopgain MSH6:NM_001281492:exon2:c.C599A:p.S200X,MSH6:NM_001281493:exon3:c.C83A:p.S28X,MSH6:NM_000179:exon4:c.C989A:p.S330X,MSH6:NM_001281494:exon4:c.C83A:p.S28X 2p16.3 . rs786202848 . . . . . . 0.010 N 1 D . . . . . . . 8.718 35 0.993 0.878 D . . . . 0.672 0 2.16 0.008 0.077 0.229 0.946 7.979 Deleterious (FATHMM)
234 2 47799788 C G Pathogenic MSH6 . . . . . . . . . . 2 47799788 47799788 C G exonic MSH6 . stopgain MSH6:NM_001281492:exon2:c.C1415G:p.S472X,MSH6:NM_001281493:exon3:c.C899G:p.S300X,MSH6:NM_000179:exon4:c.C1805G:p.S602X,MSH6:NM_001281494:exon4:c.C899G:p.S300X 2p16.3 . rs730881816 . . . . . . 0.000 D 1 D . . . . . . . 10.460 36 0.995 0.989 D . . . . 0.672 0 4.95 0.871 0.892 0.784 0.736 18.552 Deleterious (FATHMM)
235 2 47803419 G C Pathogenic/Likely pathogenic MSH6 . . . . . . . . . . 2 47803419 47803419 G C splicing MSH6 NM_001281493:exon4:c.2267-1G>C,NM_000179:exon5:c.3173-1G>C,NM_001281492:exon3:c.2783-1G>C,NM_001281494:exon5:c.2267-1G>C . . 2p16.3 . rs397515875 . . . . . . . . 1 D . . . . . . . 5.132 25.4 0.995 0.983 D . . . . 0.257 0 5.42 0.917 0.902 0.989 0.996 19.209 Deleterious (FATHMM)
236 2 61839695 A T Pathogenic FAM161A . . . . . . . . . . 2 61839695 61839695 A T exonic FAM161A . synonymous SNV FAM161A:NM_001201543:exon3:c.A1309A:p.R437R,FAM161A:NM_032180:exon3:c.A1309A:p.R437R 2p15 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
237 2 71503308 C T Pathogenic DYSF . . . . . . . . . . 2 71503308 71503308 C T exonic DYSF . stopgain DYSF:NM_001130455:exon4:c.C334T:p.Q112X,DYSF:NM_001130976:exon4:c.C331T:p.Q111X,DYSF:NM_001130977:exon4:c.C331T:p.Q111X,DYSF:NM_001130978:exon4:c.C331T:p.Q111X,DYSF:NM_001130979:exon4:c.C331T:p.Q111X,DYSF:NM_001130980:exon4:c.C331T:p.Q111X,DYSF:NM_001130981:exon4:c.C331T:p.Q111X,DYSF:NM_001130982:exon4:c.C334T:p.Q112X,DYSF:NM_001130983:exon4:c.C334T:p.Q112X,DYSF:NM_001130984:exon4:c.C334T:p.Q112X,DYSF:NM_001130985:exon4:c.C334T:p.Q112X,DYSF:NM_001130986:exon4:c.C334T:p.Q112X,DYSF:NM_001130987:exon4:c.C334T:p.Q112X,DYSF:NM_003494:exon4:c.C331T:p.Q111X 2p13.2 . rs746315830 . . . . . . 0.005 N 1 A . . . . . . . 12.550 39 0.998 0.733 D . . . . 0.507 0 4.96 0.871 0.935 0.998 0.996 13.678 Deleterious (FATHMM)
238 2 71526295 C T Pathogenic DYSF . . . . . . . . . . 2 71526295 71526295 C T exonic DYSF . stopgain DYSF:NM_001130455:exon12:c.C1132T:p.R378X,DYSF:NM_001130976:exon12:c.C1129T:p.R377X,DYSF:NM_001130977:exon12:c.C1129T:p.R377X,DYSF:NM_001130978:exon12:c.C1129T:p.R377X,DYSF:NM_001130983:exon12:c.C1132T:p.R378X,DYSF:NM_001130984:exon12:c.C1132T:p.R378X,DYSF:NM_001130986:exon12:c.C1132T:p.R378X,DYSF:NM_003494:exon12:c.C1129T:p.R377X,DYSF:NM_001130979:exon13:c.C1222T:p.R408X,DYSF:NM_001130980:exon13:c.C1222T:p.R408X,DYSF:NM_001130981:exon13:c.C1222T:p.R408X,DYSF:NM_001130982:exon13:c.C1225T:p.R409X,DYSF:NM_001130985:exon13:c.C1225T:p.R409X,DYSF:NM_001130987:exon13:c.C1225T:p.R409X 2p13.2 . rs758180890 . . . . . . 0.000 D 1 A . . . . . . . 10.360 36 0.998 0.849 D . . . . 0.707 0 3.53 0.598 0.059 0.984 0.972 12.346 Deleterious (FATHMM)
239 2 71551631 C T Pathogenic DYSF . . . . . . . . . . 2 71551631 71551631 C T exonic DYSF . nonsynonymous SNV DYSF:NM_001130976:exon18:c.C1621T:p.R541W,DYSF:NM_001130977:exon18:c.C1621T:p.R541W,DYSF:NM_001130984:exon18:c.C1624T:p.R542W,DYSF:NM_001130986:exon18:c.C1624T:p.R542W,DYSF:NM_001130455:exon19:c.C1666T:p.R556W,DYSF:NM_001130978:exon19:c.C1663T:p.R555W,DYSF:NM_001130980:exon19:c.C1714T:p.R572W,DYSF:NM_001130981:exon19:c.C1714T:p.R572W,DYSF:NM_001130983:exon19:c.C1666T:p.R556W,DYSF:NM_001130985:exon19:c.C1717T:p.R573W,DYSF:NM_001130987:exon19:c.C1717T:p.R573W,DYSF:NM_003494:exon19:c.C1663T:p.R555W,DYSF:NM_001130979:exon20:c.C1756T:p.R586W,DYSF:NM_001130982:exon20:c.C1759T:p.R587W 2p13.2 7.7e-05 rs377735262 0.001 D 1.0 D 1.0 D 0.000 D 1.000 D 3.04 M -3.04 D -7.22 D 0.985 7.847 35 0.999 0.903 D 0.999 D 0.902 D 0.707 0 4.57 -0.022 -0.035 0.876 0.942 12.975 Deleterious
240 2 71553092 C T Pathogenic DYSF . . . . . . . . . . 2 71553092 71553092 C T exonic DYSF . stopgain DYSF:NM_001130976:exon19:c.C1792T:p.Q598X,DYSF:NM_001130977:exon19:c.C1792T:p.Q598X,DYSF:NM_001130984:exon19:c.C1795T:p.Q599X,DYSF:NM_001130986:exon19:c.C1795T:p.Q599X,DYSF:NM_001130455:exon20:c.C1837T:p.Q613X,DYSF:NM_001130978:exon20:c.C1834T:p.Q612X,DYSF:NM_001130980:exon20:c.C1885T:p.Q629X,DYSF:NM_001130981:exon20:c.C1885T:p.Q629X,DYSF:NM_001130983:exon20:c.C1837T:p.Q613X,DYSF:NM_001130985:exon20:c.C1888T:p.Q630X,DYSF:NM_001130987:exon20:c.C1888T:p.Q630X,DYSF:NM_003494:exon20:c.C1834T:p.Q612X,DYSF:NM_001130979:exon21:c.C1927T:p.Q643X,DYSF:NM_001130982:exon21:c.C1930T:p.Q644X 2p13.2 . rs746873768 . . . . . . 0.000 D 1 A . . . . . . . 13.774 43 0.999 0.977 D . . . . 0.707 0 5.3 0.871 0.935 1.000 0.999 16.475 Deleterious (FATHMM)
241 2 71553110 G C Pathogenic/Likely pathogenic DYSF . . . . . . . . . . 2 71553110 71553110 G C exonic DYSF . nonsynonymous SNV DYSF:NM_001130976:exon19:c.G1810C:p.G604R,DYSF:NM_001130977:exon19:c.G1810C:p.G604R,DYSF:NM_001130984:exon19:c.G1813C:p.G605R,DYSF:NM_001130986:exon19:c.G1813C:p.G605R,DYSF:NM_001130455:exon20:c.G1855C:p.G619R,DYSF:NM_001130978:exon20:c.G1852C:p.G618R,DYSF:NM_001130980:exon20:c.G1903C:p.G635R,DYSF:NM_001130981:exon20:c.G1903C:p.G635R,DYSF:NM_001130983:exon20:c.G1855C:p.G619R,DYSF:NM_001130985:exon20:c.G1906C:p.G636R,DYSF:NM_001130987:exon20:c.G1906C:p.G636R,DYSF:NM_003494:exon20:c.G1852C:p.G618R,DYSF:NM_001130979:exon21:c.G1945C:p.G649R,DYSF:NM_001130982:exon21:c.G1948C:p.G650R 2p13.2 . . 0.0 D 1.0 D 1.0 D 0.000 D 1 D 3.055 M -3.54 D -7.19 D 0.992 7.069 33 0.999 0.990 D 1.047 D 0.924 D 0.707 0 5.3 0.917 1.048 1.000 0.945 16.475 Deleterious
242 2 71568083 G A Pathogenic/Likely pathogenic DYSF . . . . . . . . . . 2 71568083 71568083 G A splicing DYSF NM_001130979:exon26:c.2736+1G>A,NM_001130976:exon24:c.2601+1G>A,NM_003494:exon25:c.2643+1G>A,NM_001130978:exon25:c.2643+1G>A,NM_001130981:exon25:c.2694+1G>A,NM_001130980:exon25:c.2694+1G>A,NM_001130977:exon24:c.2601+1G>A,NM_001130983:exon25:c.2646+1G>A,NM_001130982:exon26:c.2739+1G>A,NM_001130455:exon25:c.2646+1G>A,NM_001130986:exon24:c.2604+1G>A,NM_001130985:exon25:c.2697+1G>A,NM_001130987:exon25:c.2697+1G>A,NM_001130984:exon24:c.2604+1G>A . . 2p13.2 0.0006 rs140108514 . . . . . . . . 1 D . . . . . . . 5.590 26.5 0.995 0.992 D . . . . 0.156 0 4.94 0.917 1.038 0.985 0.980 15.669 Deleterious (FATHMM)
243 2 71570679 C T Pathogenic DYSF . . . . . . . . . . 2 71570679 71570679 C T exonic DYSF . stopgain DYSF:NM_001130976:exon28:c.C3070T:p.R1024X,DYSF:NM_001130977:exon28:c.C3070T:p.R1024X,DYSF:NM_001130984:exon28:c.C3073T:p.R1025X,DYSF:NM_001130986:exon28:c.C3073T:p.R1025X,DYSF:NM_001130455:exon29:c.C3115T:p.R1039X,DYSF:NM_001130978:exon29:c.C3112T:p.R1038X,DYSF:NM_001130980:exon29:c.C3163T:p.R1055X,DYSF:NM_001130981:exon29:c.C3163T:p.R1055X,DYSF:NM_001130983:exon29:c.C3115T:p.R1039X,DYSF:NM_001130985:exon29:c.C3166T:p.R1056X,DYSF:NM_001130987:exon29:c.C3166T:p.R1056X,DYSF:NM_003494:exon29:c.C3112T:p.R1038X,DYSF:NM_001130979:exon30:c.C3205T:p.R1069X,DYSF:NM_001130982:exon30:c.C3208T:p.R1070X 2p13.2 . rs369607332 . . . . . . 0.000 D 1 A . . . . . . . 12.315 39 0.998 0.770 D . . . . 0.707 0 2.05 -0.022 -0.035 0.836 0.964 3.634 Deleterious (FATHMM)
244 2 71590212 T A Pathogenic/Likely pathogenic DYSF . . . . . . . . . . 2 71590212 71590212 T A exonic DYSF . stopgain DYSF:NM_001130976:exon31:c.T3402A:p.Y1134X,DYSF:NM_001130977:exon31:c.T3402A:p.Y1134X,DYSF:NM_001130984:exon31:c.T3405A:p.Y1135X,DYSF:NM_001130986:exon31:c.T3405A:p.Y1135X,DYSF:NM_001130455:exon32:c.T3447A:p.Y1149X,DYSF:NM_001130978:exon32:c.T3444A:p.Y1148X,DYSF:NM_001130980:exon32:c.T3495A:p.Y1165X,DYSF:NM_001130981:exon32:c.T3495A:p.Y1165X,DYSF:NM_001130983:exon32:c.T3447A:p.Y1149X,DYSF:NM_001130985:exon32:c.T3498A:p.Y1166X,DYSF:NM_001130987:exon32:c.T3498A:p.Y1166X,DYSF:NM_003494:exon32:c.T3444A:p.Y1148X,DYSF:NM_001130979:exon33:c.T3537A:p.Y1179X,DYSF:NM_001130982:exon33:c.T3540A:p.Y1180X 2p13.2 . rs758944159 . . . . . . 0.002 N 1 A . . . . . . . 10.025 36 0.991 0.750 D . . . . 0.707 0 -5.01 0.991 0.964 0.995 0.994 13.129 Deleterious (FATHMM)
245 2 71612726 G A Pathogenic/Likely pathogenic DYSF . . . . . . . . . . 2 71612726 71612726 G A exonic DYSF . nonsynonymous SNV DYSF:NM_001130976:exon38:c.G4211A:p.G1404D,DYSF:NM_001130977:exon38:c.G4211A:p.G1404D,DYSF:NM_001130984:exon38:c.G4214A:p.G1405D,DYSF:NM_001130986:exon38:c.G4214A:p.G1405D,DYSF:NM_001130455:exon39:c.G4256A:p.G1419D,DYSF:NM_001130978:exon39:c.G4253A:p.G1418D,DYSF:NM_001130980:exon39:c.G4304A:p.G1435D,DYSF:NM_001130981:exon39:c.G4304A:p.G1435D,DYSF:NM_001130983:exon39:c.G4256A:p.G1419D,DYSF:NM_001130985:exon39:c.G4307A:p.G1436D,DYSF:NM_001130987:exon39:c.G4307A:p.G1436D,DYSF:NM_003494:exon39:c.G4253A:p.G1418D,DYSF:NM_001130979:exon40:c.G4346A:p.G1449D,DYSF:NM_001130982:exon40:c.G4349A:p.G1450D 2p13.2 . rs398123787 0.0 D 1.0 D 1.0 D 0.000 D 1.000 D 3.47 M -3.89 D -6.39 D 0.956 5.952 27.7 0.998 0.978 D 1.092 D 0.945 D 0.707 0 5.52 0.917 1.048 1.000 1.000 16.916 Deleterious
246 2 71665181 C T Pathogenic/Likely pathogenic DYSF . . . . . . . . . . 2 71665181 71665181 C T exonic DYSF . nonsynonymous SNV DYSF:NM_001130976:exon45:c.C5035T:p.R1679W,DYSF:NM_001130986:exon45:c.C5038T:p.R1680W,DYSF:NM_001130455:exon46:c.C5080T:p.R1694W,DYSF:NM_001130977:exon46:c.C5098T:p.R1700W,DYSF:NM_001130980:exon46:c.C5128T:p.R1710W,DYSF:NM_001130984:exon46:c.C5101T:p.R1701W,DYSF:NM_001130985:exon46:c.C5131T:p.R1711W,DYSF:NM_003494:exon46:c.C5077T:p.R1693W,DYSF:NM_001130978:exon47:c.C5140T:p.R1714W,DYSF:NM_001130979:exon47:c.C5170T:p.R1724W,DYSF:NM_001130981:exon47:c.C5191T:p.R1731W,DYSF:NM_001130982:exon47:c.C5173T:p.R1725W,DYSF:NM_001130983:exon47:c.C5143T:p.R1715W,DYSF:NM_001130987:exon47:c.C5194T:p.R1732W 2p13.2 . rs863225021 0.0 D 1.0 D 0.999 D 0.000 D 1.000 D 3.43 M -2.3 D -7.26 D 0.963 7.063 33 0.998 0.317 N 0.780 D 0.845 D 0.707 0 -4.46 0.067 -0.817 0.997 0.992 19.749 Deleterious
247 2 71668842 G A Pathogenic DYSF . . . . . . . . . . 2 71668842 71668842 G A exonic DYSF . nonsynonymous SNV DYSF:NM_001130976:exon47:c.G5387A:p.R1796K,DYSF:NM_001130986:exon47:c.G5390A:p.R1797K,DYSF:NM_001130455:exon48:c.G5432A:p.R1811K,DYSF:NM_001130977:exon48:c.G5450A:p.R1817K,DYSF:NM_001130980:exon48:c.G5480A:p.R1827K,DYSF:NM_001130984:exon48:c.G5453A:p.R1818K,DYSF:NM_001130985:exon48:c.G5483A:p.R1828K,DYSF:NM_003494:exon48:c.G5429A:p.R1810K,DYSF:NM_001130978:exon49:c.G5492A:p.R1831K,DYSF:NM_001130979:exon49:c.G5522A:p.R1841K,DYSF:NM_001130981:exon49:c.G5543A:p.R1848K,DYSF:NM_001130982:exon49:c.G5525A:p.R1842K,DYSF:NM_001130983:exon49:c.G5495A:p.R1832K,DYSF:NM_001130987:exon49:c.G5546A:p.R1849K 2p13.2 . rs786205084 0.939 T 0.15 B 0.075 B 0.000 D 0.999 D 0.295 N -2.0 D 0.08 N 0.079 1.424 12.91 0.925 0.897 D -0.570 T 0.331 T 0.707 0 4.87 0.917 0.953 0.650 0.965 15.542 Tolerated
248 2 71682597 C T Pathogenic DYSF . . . . . . . . . . 2 71682597 71682597 C T exonic DYSF . nonsynonymous SNV DYSF:NM_001130976:exon53:c.C6082T:p.R2028C,DYSF:NM_001130986:exon53:c.C6085T:p.R2029C,DYSF:NM_001130455:exon54:c.C6127T:p.R2043C,DYSF:NM_001130977:exon54:c.C6145T:p.R2049C,DYSF:NM_001130980:exon54:c.C6175T:p.R2059C,DYSF:NM_001130984:exon54:c.C6148T:p.R2050C,DYSF:NM_001130985:exon54:c.C6178T:p.R2060C,DYSF:NM_003494:exon54:c.C6124T:p.R2042C,DYSF:NM_001130978:exon55:c.C6187T:p.R2063C,DYSF:NM_001130979:exon55:c.C6217T:p.R2073C,DYSF:NM_001130981:exon55:c.C6238T:p.R2080C,DYSF:NM_001130982:exon55:c.C6220T:p.R2074C,DYSF:NM_001130983:exon55:c.C6190T:p.R2064C,DYSF:NM_001130987:exon55:c.C6241T:p.R2081C 2p13.2 . rs121908955 0.0 D 1.0 D 0.999 D 0.000 D 1.000 A 2.685 M -1.78 D -5.77 D 0.913 7.776 35 0.999 0.958 D 0.654 D 0.698 D 0.707 0 3.16 -0.058 0.935 0.844 0.997 11.550 Deleterious
249 2 73913565 C T Pathogenic ACTG2 . . . . . . . . . . 2 73913565 73913565 C T exonic ACTG2 . nonsynonymous SNV ACTG2:NM_001199893:exon5:c.C403T:p.R135C,ACTG2:NM_001615:exon6:c.C532T:p.R178C 2p13.1 . rs78001248 . . 0.832 P 0.293 B 0.000 D 1 D 4.53 H -3.62 D -6.3 D 0.956 6.220 28.8 0.999 0.981 D 1.065 D 0.900 D 0.706 0 4.94 0.871 0.932 0.998 1.000 17.448 Deleterious
250 2 73913566 G A Pathogenic ACTG2 . . . . . . . . . . 2 73913566 73913566 G A exonic ACTG2 . nonsynonymous SNV ACTG2:NM_001199893:exon5:c.G404A:p.R135H,ACTG2:NM_001615:exon6:c.G533A:p.R178H 2p13.1 . rs587777384 . . 0.672 P 0.293 B 0.000 D 1.000 D 2.95 M -3.57 D -3.87 D 0.926 4.440 24.2 0.999 0.989 D 0.921 D 0.849 D 0.706 0 4.94 0.917 1.045 0.996 1.000 17.448 Deleterious
251 2 73914835 C T Pathogenic ACTG2 . . . . . . . . . . 2 73914835 73914835 C T exonic ACTG2 . nonsynonymous SNV ACTG2:NM_001199893:exon6:c.C640T:p.R214C,ACTG2:NM_001615:exon7:c.C769T:p.R257C 2p13.1 . rs587777387 . . 1.0 D 0.992 D 0.000 D 1 D 4.03 H -3.58 D -6.18 D 0.965 6.364 29.4 0.999 0.976 D 1.094 D 0.944 D 0.706 0 4.71 0.871 0.932 1.000 1.000 16.948 Deleterious
252 2 98370077 G A Pathogenic/Likely pathogenic CNGA3 . . . . . . . . . . 2 98370077 98370077 G A splicing CNGA3 NM_001079878:exon2:c.101+1G>A,NM_001298:exon2:c.101+1G>A . . 2q11.2 0.0006 rs147118493 . . . . . . . . 1 D . . . . . . . 3.739 23.3 0.986 0.930 D . . . . 0.061 0 4.2 0.917 1.048 0.957 0.955 12.252 Deleterious (FATHMM)
253 2 108896995 G A Pathogenic/Likely pathogenic RANBP2|EDAR . . . . . . . . . . 2 108896995 108896995 G A exonic EDAR . nonsynonymous SNV EDAR:NM_022336:exon12:c.G1259T:p.R420L 2q13 . . 0.047 D 1.0 D 0.999 D 0.000 D 1 D 0.55 N -2.08 D -1.66 N 0.966 7.760 35 0.998 0.982 D 0.122 D 0.645 D 0.487 0 5.49 0.871 0.064 0.997 0.997 19.382 Deleterious
254 2 108897110 G A Pathogenic RANBP2|EDAR . . . . . . . . . . 2 108897110 108897110 G A exonic EDAR . nonsynonymous SNV EDAR:NM_022336:exon12:c.G1144T:p.G382C 2q13 . . 0.0 D 1.0 D 1.0 D 0.000 D 1 D 0.55 N -2.53 D -2.86 D 0.86 7.205 34 0.998 0.984 D 0.589 D 0.715 D 0.487 0 5.64 0.871 0.935 1.000 0.927 19.721 Deleterious
255 2 144398426 C T Pathogenic ZEB2 . . . . . . . . . . 2 144398426 144398426 C T exonic ZEB2 . synonymous SNV ZEB2:NM_001171653:exon7:c.C2689A:p.R897R,ZEB2:NM_014795:exon8:c.C2761A:p.R921R 2q22.3 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
256 2 144399104 C T Pathogenic ZEB2 . . . . . . . . . . 2 144399104 144399104 C T exonic ZEB2 . synonymous SNV ZEB2:NM_001171653:exon7:c.C2011A:p.R671R,ZEB2:NM_014795:exon8:c.C2083A:p.R695R 2q22.3 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
257 2 144400085 C T Pathogenic ZEB2 . . . . . . . . . . 2 144400085 144400085 C T exonic ZEB2 . nonsynonymous SNV ZEB2:NM_001171653:exon7:c.C1030A:p.Q344K,ZEB2:NM_014795:exon8:c.C1102A:p.Q368K 2q22.3 . . 0.003 D 0.998 D 0.997 D 0.000 D 1 D 1.79 L 2.45 T -1.53 N 0.848 4.771 24.7 0.994 0.974 D -1.061 T 0.118 T 0.707 0 5.64 0.917 1.048 0.985 1.000 19.716 Tolerated
258 2 144400160 C T Pathogenic ZEB2 . . . . . . . . . . 2 144400160 144400160 C T exonic ZEB2 . synonymous SNV ZEB2:NM_001171653:exon7:c.C955A:p.R319R,ZEB2:NM_014795:exon8:c.C1027A:p.R343R 2q22.3 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
259 2 144401211 C T Pathogenic ZEB2 . . . . . . . . . . 2 144401211 144401211 C T exonic ZEB2 . synonymous SNV ZEB2:NM_001171653:exon6:c.C832A:p.R278R,ZEB2:NM_014795:exon7:c.C904A:p.R302R 2q22.3 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
260 2 144404049 C A Pathogenic ZEB2 . . . . . . . . . . 2 144404049 144404049 C A exonic ZEB2 . nonsynonymous SNV ZEB2:NM_001171653:exon5:c.C602T:p.S201L,ZEB2:NM_014795:exon6:c.C674T:p.S225L 2q22.3 . . 0.0 D 1.0 D 0.998 D 0.000 D 1 D 1.115 L 1.63 T -4.14 D 0.889 6.303 29.1 0.999 0.962 D -0.907 T 0.155 T 0.719 0 5.65 0.917 0.953 0.998 0.999 19.733 Tolerated
261 2 147952440 A G Pathogenic/Likely pathogenic ORC4 . . . . . . . . . . 2 147952440 147952440 A G exonic ORC4 . nonsynonymous SNV ORC4:NM_001190881:exon5:c.A269C:p.Y90S,ORC4:NM_001190882:exon7:c.A299C:p.Y100S,ORC4:NM_002552:exon8:c.A521C:p.Y174S,ORC4:NM_181741:exon8:c.A521C:p.Y174S,ORC4:NM_181742:exon8:c.A521C:p.Y174S,ORC4:NM_001190879:exon9:c.A521C:p.Y174S 2q23.1 . . 0.0 D 0.995 D 0.963 D 0.000 D 1 D 2.785 M 0.48 T -8.98 D 0.973 6.478 30 0.992 0.967 D 1.001 D 0.896 D 0.732 0 5.85 0.991 1.011 1.000 0.999 16.231 Deleterious
262 2 148947018 G A Pathogenic KIF5C . . . . . . . . . . 2 148947018 148947018 G A exonic KIF5C . nonsynonymous SNV KIF5C:NM_004522:exon8:c.G709A:p.E237K 2q23.1 . rs587777570 0.001 D 1.0 D 1.0 D 0.000 D 1 D . . -1.85 D -3.68 D 0.977 7.430 34 0.999 0.996 D 0.651 D 0.775 D 0.732 0 5.34 0.917 1.048 0.998 0.995 19.595 Deleterious
263 2 151551738 G A Pathogenic NEB . . . . . . . . . . 2 151551738 151551738 G A exonic NEB . synonymous SNV NEB:NM_004543:exon101:c.G14805T:p.S4935S,NEB:NM_001164507:exon129:c.G19944T:p.S6648S,NEB:NM_001164508:exon129:c.G19944T:p.S6648S,NEB:NM_001271208:exon129:c.G19944T:p.S6648S 2q23.3 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
264 2 165310413 C T Pathogenic SCN2A . . . . . . . . . . 2 165310413 165310413 C T exonic SCN2A . nonsynonymous SNV SCN2A:NM_001040143:exon6:c.C788T:p.A263V,SCN2A:NM_001040142:exon7:c.C788T:p.A263V,SCN2A:NM_021007:exon7:c.C788T:p.A263V 2q24.3 . rs387906686 0.0 D 1.0 D 0.999 D 0.000 D 1 D 4.345 H -4.95 D -3.91 D 0.987 6.276 29.0 0.999 0.980 D 1.035 D 0.982 D 0.554 0 5.27 0.871 0.935 0.978 0.859 19.241 Deleterious
265 2 165342465 G A Pathogenic/Likely pathogenic SCN2A . . . . . . . . . . 2 165342465 165342465 G A exonic SCN2A . nonsynonymous SNV SCN2A:NM_001040143:exon14:c.G2558A:p.R853Q,SCN2A:NM_001040142:exon15:c.G2558A:p.R853Q,SCN2A:NM_021007:exon15:c.G2558A:p.R853Q 2q24.3 . rs794727152 0.001 D 1.0 D 0.999 D 0.000 D 1.000 D 3.515 H -5.12 D -3.65 D 0.919 7.468 34 1.000 0.997 D 1.065 D 0.980 D 0.487 0 5.48 0.917 1.048 0.988 0.999 19.334 Deleterious
266 2 165354232 G T Pathogenic/Likely pathogenic SCN2A . . . . . . . . . . 2 165354232 165354232 G T exonic SCN2A . nonsynonymous SNV SCN2A:NM_001040143:exon16:c.G2960T:p.S987I,SCN2A:NM_001040142:exon17:c.G2960T:p.S987I,SCN2A:NM_021007:exon17:c.G2960T:p.S987I 2q24.3 . rs796053124 0.0 D 0.975 D 0.805 P 0.000 D 1.000 D 3.925 H -4.52 D -5.73 D 0.718 5.585 26.5 0.996 0.992 D 1.082 D 0.964 D 0.487 0 4.81 0.917 0.127 0.995 0.995 14.821 Deleterious
267 2 165367327 G A Pathogenic/Likely pathogenic SCN2A . . . . . . . . . . 2 165367327 165367327 G A exonic SCN2A . nonsynonymous SNV SCN2A:NM_001040143:exon18:c.G3631A:p.E1211K,SCN2A:NM_001040142:exon19:c.G3631A:p.E1211K,SCN2A:NM_021007:exon19:c.G3631A:p.E1211K 2q24.3 . rs387906684 0.0 D 0.999 D 0.936 D 0.000 D 1 D 2.795 M -3.46 D -3.82 D 0.973 7.622 34 0.999 0.993 D 1.004 D 0.919 D 0.487 0 6.07 0.917 1.048 1.000 1.000 20.659 Deleterious
268 2 165388683 G A Pathogenic SCN2A . . . . . . . . . . 2 165388683 165388683 G A exonic SCN2A . nonsynonymous SNV SCN2A:NM_001040143:exon26:c.G4877A:p.R1626Q,SCN2A:NM_001040142:exon27:c.G4877A:p.R1626Q,SCN2A:NM_021007:exon27:c.G4877A:p.R1626Q 2q24.3 . rs796053155 0.0 D 0.999 D 0.998 D 0.000 D 1.000 D 3.53 H -4.67 D -3.48 D 0.953 5.403 26.0 0.999 0.992 D 1.087 D 0.971 D 0.487 0 5.49 0.917 1.048 0.999 0.998 19.803 Deleterious
269 2 165389451 G A Pathogenic/Likely pathogenic SCN2A . . . . . . . . . . 2 165389451 165389451 G A exonic SCN2A . nonsynonymous SNV SCN2A:NM_001040143:exon26:c.G5645A:p.R1882Q,SCN2A:NM_001040142:exon27:c.G5645A:p.R1882Q,SCN2A:NM_021007:exon27:c.G5645A:p.R1882Q 2q24.3 . rs794727444 0.001 D 0.994 D 0.986 D 0.000 D 1.000 D 2.5 M -3.92 D -3.12 D 0.811 6.414 29.7 0.999 0.997 D 1.041 D 0.928 D 0.554 0 5.53 0.866 0.998 0.998 0.971 19.885 Deleterious
270 2 165991601 C T Pathogenic SCN1A|LOC102724058 . . . . . . . . . . 2 165991601 165991601 C T exonic SCN1A . synonymous SNV SCN1A:NM_001165963:exon26:c.C5674A:p.R1892R,SCN1A:NM_001165964:exon26:c.C5590A:p.R1864R,SCN1A:NM_006920:exon26:c.C5641A:p.R1881R,SCN1A:NM_001202435:exon28:c.C5674A:p.R1892R 2q24.3 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
271 2 165991619 C T Pathogenic SCN1A|LOC102724058 . . . . . . . . . . 2 165991619 165991619 C T exonic SCN1A . synonymous SNV SCN1A:NM_001165963:exon26:c.C5656A:p.R1886R,SCN1A:NM_001165964:exon26:c.C5572A:p.R1858R,SCN1A:NM_006920:exon26:c.C5623A:p.R1875R,SCN1A:NM_001202435:exon28:c.C5656A:p.R1886R 2q24.3 . rs779614747 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
272 2 165991927 C T Pathogenic SCN1A|LOC102724058 . . . . . . . . . . 2 165991927 165991927 C T exonic SCN1A . nonsynonymous SNV SCN1A:NM_001165963:exon26:c.C5348A:p.A1783E,SCN1A:NM_001165964:exon26:c.C5264A:p.A1755E,SCN1A:NM_006920:exon26:c.C5315A:p.A1772E,SCN1A:NM_001202435:exon28:c.C5348A:p.A1783E 2q24.3 . . 0.0 D 1.0 D 1.0 D 0.000 D 1 D 4.37 H -5.65 D -4.6 D 0.985 6.314 29.2 0.993 0.996 D 0.980 D 0.990 D 0.487 0 5.69 0.917 1.048 0.999 0.665 19.823 Deleterious
273 2 165991928 G A Pathogenic SCN1A|LOC102724058 . . . . . . . . . . 2 165991928 165991928 G A exonic SCN1A . nonsynonymous SNV SCN1A:NM_001165963:exon26:c.G5347T:p.A1783S,SCN1A:NM_001165964:exon26:c.G5263T:p.A1755S,SCN1A:NM_006920:exon26:c.G5314T:p.A1772S,SCN1A:NM_001202435:exon28:c.G5347T:p.A1783S 2q24.3 . . 0.0 D 1.0 D 0.999 D 0.000 D 1 D 3.565 H -5.62 D -2.76 D 0.84 6.569 31 0.998 0.993 D 1.034 D 0.986 D 0.487 0 5.69 0.871 0.935 0.999 0.668 19.823 Deleterious
274 2 165992053 G A Pathogenic SCN1A|LOC102724058 . . . . . . . . . . 2 165992053 165992053 G A exonic SCN1A . nonsynonymous SNV SCN1A:NM_001165963:exon26:c.G5222T:p.C1741F,SCN1A:NM_001165964:exon26:c.G5138T:p.C1713F,SCN1A:NM_006920:exon26:c.G5189T:p.C1730F,SCN1A:NM_001202435:exon28:c.G5222T:p.C1741F 2q24.3 . . 0.0 D 1.0 D 0.999 D 0.000 D 1 D 3.9 H -4.63 D -10.13 D 0.983 6.702 32 0.992 0.996 D 1.074 D 0.975 D 0.487 0 5.69 0.871 0.876 0.999 0.983 19.823 Deleterious
275 2 165992368 G A Pathogenic/Likely pathogenic, not provided SCN1A|LOC102724058 . . . . . . . . . . 2 165992368 165992368 G A exonic SCN1A . nonsynonymous SNV SCN1A:NM_001165963:exon26:c.G4907T:p.R1636L,SCN1A:NM_001165964:exon26:c.G4823T:p.R1608L,SCN1A:NM_006920:exon26:c.G4874T:p.R1625L,SCN1A:NM_001202435:exon28:c.G4907T:p.R1636L 2q24.3 . . 0.008 D 1.0 D 0.999 D 0.000 D 1 D 3.6 H -4.68 D -6.09 D 0.963 7.402 34 0.998 0.995 D 1.090 D 0.970 D 0.487 0 5.27 0.871 0.935 0.999 1.000 18.899 Deleterious
276 2 165992369 C T Pathogenic SCN1A|LOC102724058 . . . . . . . . . . 2 165992369 165992369 C T exonic SCN1A . synonymous SNV SCN1A:NM_001165963:exon26:c.C4906A:p.R1636R,SCN1A:NM_001165964:exon26:c.C4822A:p.R1608R,SCN1A:NM_006920:exon26:c.C4873A:p.R1625R,SCN1A:NM_001202435:exon28:c.C4906A:p.R1636R 2q24.3 0.0002 rs199727342 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
277 2 165996021 C T Pathogenic SCN1A|LOC102724058 . . . . . . . . . . 2 165996021 165996021 C T exonic SCN1A . synonymous SNV SCN1A:NM_001165963:exon24:c.C4573A:p.R1525R,SCN1A:NM_001165964:exon24:c.C4489A:p.R1497R,SCN1A:NM_006920:exon24:c.C4540A:p.R1514R,SCN1A:NM_001202435:exon26:c.C4573A:p.R1525R 2q24.3 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
278 2 165996045 A T Pathogenic SCN1A|LOC102724058 . . . . . . . . . . 2 165996045 165996045 A T exonic SCN1A . synonymous SNV SCN1A:NM_001165963:exon24:c.A4549A:p.K1517K,SCN1A:NM_001165964:exon24:c.A4465A:p.K1489K,SCN1A:NM_006920:exon24:c.A4516A:p.K1506K,SCN1A:NM_001202435:exon26:c.A4549A:p.K1517K 2q24.3 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
279 2 165998037 A G Pathogenic SCN1A|LOC102724058 . . . . . . . . . . 2 165998037 165998037 A G splicing SCN1A NM_001165964:exon23:c.4392+1T>C,NM_006920:exon23:c.4443+1T>C,NM_001165963:exon23:c.4476+1T>C,NM_001202435:exon25:c.4476+1T>C . . 2q24.3 . . . . . . . . . . 1 D . . . . . . . 5.126 25.4 0.994 0.981 D . . . . 0.061 0 5.15 0.970 1.009 0.999 1.000 14.958 Deleterious (FATHMM)
280 2 166002588 G A Pathogenic SCN1A|LOC102724058 . . . . . . . . . . 2 166002588 166002588 G A exonic SCN1A . nonsynonymous SNV SCN1A:NM_001165963:exon21:c.G4168T:p.V1390L,SCN1A:NM_001165964:exon21:c.G4084T:p.V1362L,SCN1A:NM_006920:exon21:c.G4135T:p.V1379L,SCN1A:NM_001202435:exon23:c.G4168T:p.V1390L 2q24.3 . . 0.001 D 0.067 B 0.096 B 0.004 N 1.000 D 2.715 M -4.02 D -2.44 N 0.875 4.860 24.9 0.976 0.963 D 0.764 D 0.879 D 0.487 0 5.54 0.871 0.892 0.836 0.940 13.560 Deleterious
281 2 166009736 C T Pathogenic SCN1A|LOC102724058 . . . . . . . . . . 2 166009736 166009736 C T exonic SCN1A . synonymous SNV SCN1A:NM_001165963:exon20:c.C3985A:p.R1329R,SCN1A:NM_001165964:exon20:c.C3901A:p.R1301R,SCN1A:NM_006920:exon20:c.C3952A:p.R1318R,SCN1A:NM_001202435:exon22:c.C3985A:p.R1329R 2q24.3 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
282 2 166012210 A C Pathogenic SCN1A|LOC102724058 . . . . . . . . . . 2 166012210 166012210 A C exonic SCN1A . nonsynonymous SNV SCN1A:NM_001165963:exon19:c.A3778G:p.T1260A,SCN1A:NM_001165964:exon19:c.A3694G:p.T1232A,SCN1A:NM_006920:exon19:c.A3745G:p.T1249A,SCN1A:NM_001202435:exon21:c.A3778G:p.T1260A 2q24.3 . . 0.001 D 0.997 D 0.992 D 0.000 D 1 D 2.315 M -5.15 D -4.43 D 0.906 5.618 26.6 0.998 0.919 D 1.108 D 0.965 D 0.487 0 5.5 0.991 1.061 1.000 0.999 15.592 Deleterious
283 2 166012255 C T Pathogenic SCN1A|LOC102724058 . . . . . . . . . . 2 166012255 166012255 C T exonic SCN1A . synonymous SNV SCN1A:NM_001165963:exon19:c.C3733A:p.R1245R,SCN1A:NM_001165964:exon19:c.C3649A:p.R1217R,SCN1A:NM_006920:exon19:c.C3700A:p.R1234R,SCN1A:NM_001202435:exon21:c.C3733A:p.R1245R 2q24.3 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
284 2 166013812 C T Pathogenic SCN1A|LOC102724058 . . . . . . . . . . 2 166013812 166013812 C T exonic SCN1A . synonymous SNV SCN1A:NM_001165963:exon18:c.C3637A:p.R1213R,SCN1A:NM_001165964:exon18:c.C3553A:p.R1185R,SCN1A:NM_006920:exon18:c.C3604A:p.R1202R,SCN1A:NM_001202435:exon20:c.C3637A:p.R1213R 2q24.3 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
285 2 166037775 G T Pathogenic SCN1A . . . . . . . . . . 2 166037775 166037775 G T splicing SCN1A NM_001165964:exon15:c.2862+1C>A,NM_006920:exon15:c.2913+1C>A,NM_001165963:exon15:c.2946+1C>A,NM_001202435:exon17:c.2946+1C>A . . 2q24.3 . . . . . . . . . . 1 D . . . . . . . 5.639 26.6 0.995 0.986 D . . . . 0.054 0 5.18 0.871 0.892 0.998 1.000 19.049 Deleterious (FATHMM)
286 2 166037846 G A Pathogenic SCN1A . . . . . . . . . . 2 166037846 166037846 G A exonic SCN1A . nonsynonymous SNV SCN1A:NM_001165963:exon15:c.G2876T:p.C959F,SCN1A:NM_001165964:exon15:c.G2792T:p.C931F,SCN1A:NM_006920:exon15:c.G2843T:p.C948F,SCN1A:NM_001202435:exon17:c.G2876T:p.C959F 2q24.3 . . 0.0 D 1.0 D 0.997 D 0.000 D 1 D 3.335 M -4.44 D -10.65 D 0.975 6.836 33 0.992 0.987 D 1.099 D 0.961 D 0.554 0 5.18 0.871 0.892 0.998 0.995 19.049 Deleterious
287 2 166037885 G A Pathogenic SCN1A . . . . . . . . . . 2 166037885 166037885 G A exonic SCN1A . nonsynonymous SNV SCN1A:NM_001165963:exon15:c.G2837T:p.R946L,SCN1A:NM_001165964:exon15:c.G2753T:p.R918L,SCN1A:NM_006920:exon15:c.G2804T:p.R935L,SCN1A:NM_001202435:exon17:c.G2837T:p.R946L 2q24.3 . . 0.0 D 1.0 D 0.997 D 0.000 D 1 D 3.515 H -5.16 D -6.77 D 0.954 7.714 35 0.998 0.960 D 1.064 D 0.979 D 0.554 0 5.18 0.871 0.892 0.998 0.997 19.049 Deleterious
288 2 166037886 C T Pathogenic SCN1A . . . . . . . . . . 2 166037886 166037886 C T exonic SCN1A . nonsynonymous SNV SCN1A:NM_001165963:exon15:c.C2836A:p.R946S,SCN1A:NM_001165964:exon15:c.C2752A:p.R918S,SCN1A:NM_006920:exon15:c.C2803A:p.R935S,SCN1A:NM_001202435:exon17:c.C2836A:p.R946S 2q24.3 . rs121918775 0.0 D 1.0 D 0.997 D 0.000 D 1.000 D 3.515 H -5.13 D -5.8 D 0.982 6.867 33 0.997 0.947 D 1.064 D 0.979 D 0.554 0 5.18 0.917 0.998 0.999 0.997 19.049 Deleterious
289 2 166037930 G C Pathogenic/Likely pathogenic SCN1A . . . . . . . . . . 2 166037930 166037930 G C exonic SCN1A . synonymous SNV SCN1A:NM_001165963:exon15:c.G2792G:p.R931R,SCN1A:NM_001165964:exon15:c.G2708G:p.R903R,SCN1A:NM_006920:exon15:c.G2759G:p.R920R,SCN1A:NM_001202435:exon17:c.G2792G:p.R931R 2q24.3 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
290 2 166037930 G A Pathogenic SCN1A . . . . . . . . . . 2 166037930 166037930 G A exonic SCN1A . nonsynonymous SNV SCN1A:NM_001165963:exon15:c.G2792T:p.R931L,SCN1A:NM_001165964:exon15:c.G2708T:p.R903L,SCN1A:NM_006920:exon15:c.G2759T:p.R920L,SCN1A:NM_001202435:exon17:c.G2792T:p.R931L 2q24.3 . . 0.0 D 1.0 D 0.997 D 0.000 D 1 D 3.425 M -4.97 D -6.77 D 0.941 7.456 34 0.998 0.952 D 1.083 D 0.974 D 0.554 0 5.18 0.871 0.892 0.997 0.980 19.049 Deleterious
291 2 166037931 C T Pathogenic/Likely pathogenic, not provided SCN1A . . . . . . . . . . 2 166037931 166037931 C T exonic SCN1A . nonsynonymous SNV SCN1A:NM_001165963:exon15:c.C2791A:p.R931S,SCN1A:NM_001165964:exon15:c.C2707A:p.R903S,SCN1A:NM_006920:exon15:c.C2758A:p.R920S,SCN1A:NM_001202435:exon17:c.C2791A:p.R931S 2q24.3 . . 0.0 D 1.0 D 0.997 D 0.000 D 1 D 3 M -4.91 D -5.8 D 0.955 6.848 33 0.998 0.938 D 1.098 D 0.970 D 0.554 0 5.18 0.917 0.998 0.996 0.976 19.049 Deleterious
292 2 166039420 A T Pathogenic SCN1A . . . . . . . . . . 2 166039420 166039420 A T intronic SCN1A . . . 2q24.3 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . probably Tolerated (Intron)
293 2 166039428 C T Pathogenic SCN1A . . . . . . . . . . 2 166039428 166039428 C T exonic SCN1A . synonymous SNV SCN1A:NM_001165963:exon14:c.C2584A:p.R862R,SCN1A:NM_001165964:exon14:c.C2500A:p.R834R,SCN1A:NM_006920:exon14:c.C2551A:p.R851R,SCN1A:NM_001202435:exon16:c.C2584A:p.R862R 2q24.3 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
294 2 166039436 G A Pathogenic SCN1A . . . . . . . . . . 2 166039436 166039436 G A exonic SCN1A . nonsynonymous SNV SCN1A:NM_001165963:exon14:c.G2576T:p.R859L,SCN1A:NM_001165964:exon14:c.G2492T:p.R831L,SCN1A:NM_006920:exon14:c.G2543T:p.R848L,SCN1A:NM_001202435:exon16:c.G2576T:p.R859L 2q24.3 . . 0.0 D 1.0 D 0.993 D 0.000 D 1 D 4.44 H -4.93 D -6.43 D 0.974 8.196 35 0.999 0.997 D 1.028 D 0.981 D 0.487 0 4.75 0.871 0.852 0.999 0.996 18.109 Deleterious
295 2 166042334 C T Pathogenic SCN1A . . . . . . . . . . 2 166042334 166042334 C T exonic SCN1A . synonymous SNV SCN1A:NM_001165963:exon12:c.C2134A:p.R712R,SCN1A:NM_001165964:exon12:c.C2050A:p.R684R,SCN1A:NM_006920:exon12:c.C2101A:p.R701R,SCN1A:NM_001202435:exon14:c.C2134A:p.R712R 2q24.3 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
296 2 166043875 C T Pathogenic SCN1A . . . . . . . . . . 2 166043875 166043875 C T exonic SCN1A . synonymous SNV SCN1A:NM_001165963:exon11:c.C1837A:p.R613R,SCN1A:NM_001165964:exon11:c.C1837A:p.R613R,SCN1A:NM_006920:exon11:c.C1837A:p.R613R,SCN1A:NM_001202435:exon13:c.C1837A:p.R613R 2q24.3 . rs398123585 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
297 2 166043974 C T Pathogenic SCN1A . . . . . . . . . . 2 166043974 166043974 C T exonic SCN1A . synonymous SNV SCN1A:NM_001165963:exon11:c.C1738A:p.R580R,SCN1A:NM_001165964:exon11:c.C1738A:p.R580R,SCN1A:NM_006920:exon11:c.C1738A:p.R580R,SCN1A:NM_001202435:exon13:c.C1738A:p.R580R 2q24.3 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
298 2 166045081 C T Pathogenic SCN1A . . . . . . . . . . 2 166045081 166045081 C T exonic SCN1A . synonymous SNV SCN1A:NM_001165963:exon10:c.C1624A:p.R542R,SCN1A:NM_001165964:exon10:c.C1624A:p.R542R,SCN1A:NM_006920:exon10:c.C1624A:p.R542R,SCN1A:NM_001202435:exon12:c.C1624A:p.R542R 2q24.3 0.0002 rs138877187 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
299 2 166046870 A G Pathogenic SCN1A . . . . . . . . . . 2 166046870 166046870 A G exonic SCN1A . nonsynonymous SNV SCN1A:NM_001165963:exon9:c.A1277C:p.Y426S,SCN1A:NM_001165964:exon9:c.A1277C:p.Y426S,SCN1A:NM_006920:exon9:c.A1277C:p.Y426S,SCN1A:NM_001202435:exon11:c.A1277C:p.Y426S 2q24.3 . . 0.0 D 1.0 D 0.998 D 0.000 D 1.000 D 3.41 M -4.41 D -8.84 D 0.987 6.087 28.2 0.992 0.949 D 1.103 D 0.960 D 0.487 0 5.31 0.991 0.964 1.000 0.955 15.564 Deleterious
300 2 166046969 G A Pathogenic SCN1A . . . . . . . . . . 2 166046969 166046969 G A exonic SCN1A . nonsynonymous SNV SCN1A:NM_001165963:exon9:c.G1178T:p.R393L,SCN1A:NM_001165964:exon9:c.G1178T:p.R393L,SCN1A:NM_006920:exon9:c.G1178T:p.R393L,SCN1A:NM_001202435:exon11:c.G1178T:p.R393L 2q24.3 . . 0.0 D 1.0 D 0.998 D 0.000 D 1 D 3.56 H -5.05 D -6.88 D 0.99 7.934 35 0.999 0.988 D 1.066 D 0.980 D 0.487 0 5.49 0.871 0.935 1.000 0.993 19.744 Deleterious
301 2 166046970 C T Pathogenic SCN1A . . . . . . . . . . 2 166046970 166046970 C T exonic SCN1A . nonsynonymous SNV SCN1A:NM_001165963:exon9:c.C1177A:p.R393S,SCN1A:NM_001165964:exon9:c.C1177A:p.R393S,SCN1A:NM_006920:exon9:c.C1177A:p.R393S,SCN1A:NM_001202435:exon11:c.C1177A:p.R393S 2q24.3 . rs121917929 0.0 D 1.0 D 0.998 D 0.000 D 1.000 D 2.91 M -5.03 D -5.89 D 0.994 6.726 32 0.998 0.961 D 1.094 D 0.974 D 0.487 0 5.49 0.917 1.048 0.999 0.993 19.744 Deleterious
302 2 166047667 G A Pathogenic/Likely pathogenic, not provided SCN1A . . . . . . . . . . 2 166047667 166047667 G A exonic SCN1A . nonsynonymous SNV SCN1A:NM_001165963:exon8:c.G1130T:p.R377L,SCN1A:NM_001165964:exon8:c.G1130T:p.R377L,SCN1A:NM_006920:exon8:c.G1130T:p.R377L,SCN1A:NM_001202435:exon10:c.G1130T:p.R377L 2q24.3 . . 0.0 D 1.0 D 0.999 D 0.000 D 1.000 D 2.76 M -4.09 D -6.88 D 0.978 7.715 35 0.999 0.990 D 1.087 D 0.944 D 0.487 0 5.22 0.871 0.935 1.000 1.000 19.135 Deleterious
303 2 166048950 G A Pathogenic SCN1A . . . . . . . . . . 2 166048950 166048950 G A splicing SCN1A NM_001165964:exon7:c.965-1C>T,NM_006920:exon7:c.965-1C>T,NM_001165963:exon7:c.965-1C>T,NM_001202435:exon9:c.965-1C>T . . 2q24.3 . . . . . . . . . . 1 D . . . . . . . 5.668 26.7 0.995 0.994 D . . . . 0.127 0 5.27 0.871 0.935 1.000 0.996 19.259 Deleterious (FATHMM)
304 2 166051914 T C Pathogenic/Likely pathogenic SCN1A . . . . . . . . . . 2 166051914 166051914 T C exonic SCN1A . nonsynonymous SNV SCN1A:NM_001165963:exon6:c.T769G:p.C257G,SCN1A:NM_001165964:exon6:c.T769G:p.C257G,SCN1A:NM_006920:exon6:c.T769G:p.C257G,SCN1A:NM_001202435:exon8:c.T769G:p.C257G 2q24.3 . . 0.001 D 0.999 D 0.997 D 0.000 D 1 D 2.795 M -5.0 D -11.72 D 0.939 4.958 25.0 0.981 0.990 D 1.105 D 0.965 D 0.554 0 5.41 1.062 1.199 1.000 1.000 15.732 Deleterious
305 2 166052866 T G Pathogenic SCN1A . . . . . . . . . . 2 166052866 166052866 T G exonic SCN1A . nonsynonymous SNV SCN1A:NM_001165963:exon5:c.T680C:p.I227T,SCN1A:NM_001165964:exon5:c.T680C:p.I227T,SCN1A:NM_006920:exon5:c.T680C:p.I227T,SCN1A:NM_001202435:exon7:c.T680C:p.I227T 2q24.3 . . 0.0 D 0.999 D 0.997 D 0.000 D 1 D 3.39 M -5.2 D -4.88 D 0.95 5.342 25.8 0.997 0.994 D 1.073 D 0.978 D 0.487 0 5.77 1.062 1.199 0.996 0.980 16.395 Deleterious
306 2 166052882 C T Pathogenic SCN1A . . . . . . . . . . 2 166052882 166052882 C T exonic SCN1A . synonymous SNV SCN1A:NM_001165963:exon5:c.C664A:p.R222R,SCN1A:NM_001165964:exon5:c.C664A:p.R222R,SCN1A:NM_006920:exon5:c.C664A:p.R222R,SCN1A:NM_001202435:exon7:c.C664A:p.R222R 2q24.3 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
307 2 166054637 G A Pathogenic SCN1A . . . . . . . . . . 2 166054637 166054637 G A splicing SCN1A NM_001165964:exon4:c.602+1C>T,NM_006920:exon4:c.602+1C>T,NM_001165963:exon4:c.602+1C>T,NM_001202435:exon6:c.602+1C>T . . 2q24.3 . rs794726827 . . . . . . . . 1 D . . . . . . . 6.104 28.3 0.995 0.985 D . . . . 0.061 0 5.24 0.871 0.852 0.995 1.000 19.174 Deleterious (FATHMM)
308 2 166058616 C A Pathogenic SCN1A . . . . . . . . . . 2 166058616 166058616 C A exonic SCN1A . nonsynonymous SNV SCN1A:NM_001165963:exon2:c.C337T:p.P113S,SCN1A:NM_001165964:exon2:c.C337T:p.P113S,SCN1A:NM_006920:exon2:c.C337T:p.P113S,SCN1A:NM_001202435:exon4:c.C337T:p.P113S 2q24.3 . . 0.034 D 0.962 D 0.979 D 0.003 N 1.000 D 3.215 M -4.03 D -6.12 D 0.809 4.032 23.7 0.999 0.952 D 1.090 D 0.949 D 0.554 0 4.57 0.917 0.902 1.000 1.000 17.891 Deleterious
309 2 166058651 G A Pathogenic SCN1A . . . . . . . . . . 2 166058651 166058651 G A exonic SCN1A . nonsynonymous SNV SCN1A:NM_001165963:exon2:c.G302T:p.R101L,SCN1A:NM_001165964:exon2:c.G302T:p.R101L,SCN1A:NM_006920:exon2:c.G302T:p.R101L,SCN1A:NM_001202435:exon4:c.G302T:p.R101L 2q24.3 . . 0.0 D 0.942 P 0.742 P 0.001 D 1 D 3.94 H -4.78 D -6.24 D 0.936 5.849 27.3 0.998 0.984 D 1.095 D 0.969 D 0.554 0 4.43 0.871 0.807 1.000 1.000 17.591 Deleterious
310 2 166058652 C T Pathogenic SCN1A . . . . . . . . . . 2 166058652 166058652 C T exonic SCN1A . synonymous SNV SCN1A:NM_001165963:exon2:c.C301A:p.R101R,SCN1A:NM_001165964:exon2:c.C301A:p.R101R,SCN1A:NM_006920:exon2:c.C301A:p.R101R,SCN1A:NM_001202435:exon4:c.C301A:p.R101R 2q24.3 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
311 2 166058684 T C Pathogenic/Likely pathogenic, not provided SCN1A . . . . . . . . . . 2 166058684 166058684 T C exonic SCN1A . nonsynonymous SNV SCN1A:NM_001165963:exon2:c.T269G:p.F90C,SCN1A:NM_001165964:exon2:c.T269G:p.F90C,SCN1A:NM_006920:exon2:c.T269G:p.F90C,SCN1A:NM_001202435:exon4:c.T269G:p.F90C 2q24.3 . . 0.0 D 0.999 D 0.969 D 0.000 D 1.000 D 3.94 H -4.91 D -6.92 D 0.906 5.781 27.1 0.993 0.988 D 1.073 D 0.974 D 0.487 0 4.57 1.062 1.028 1.000 1.000 14.377 Deleterious
312 2 168990819 A G Pathogenic ABCB11 . . . . . . . . . . 2 168990819 168990819 A G exonic ABCB11 . nonsynonymous SNV ABCB11:NM_003742:exon9:c.A890C:p.E297A 2q31.1 . . 0.002 D 1.0 D 1.0 D 0.000 D 1 D 3.31 M -3.14 D -3.48 D 0.921 6.539 31 0.997 0.985 D 1.032 D 0.901 D 0.487 0 5.53 0.991 1.061 0.999 0.998 15.951 Deleterious
313 2 178538945 G A Pathogenic/Likely pathogenic TTN|TTN-AS1 . . . . . . . . . . 2 178538945 178538945 G A ncRNA_exonic;splicing TTN-AS1;TTN NM_001267550:exon353:c.98989+1C>T,NM_001256850:exon303:c.94066+1C>T,NM_133432:exon182:c.72169+1C>T,NM_003319:exon181:c.71794+1C>T,NM_133437:exon182:c.72370+1C>T,NM_133378:exon302:c.91285+1C>T . . 2q31.2 . . . . . . . . . . 1 D . . . . . . . 5.064 25.2 0.989 0.990 D . . . . 0.164 0 5.76 0.871 0.935 0.988 0.987 20.324 Deleterious (FATHMM)
314 2 178542263 G C Pathogenic/Likely pathogenic TTN|TTN-AS1 . . . . . . . . . . 2 178542263 178542263 G C ncRNA_exonic;splicing TTN-AS1;TTN NM_001267550:exon349:c.97492+1C>G,NM_001256850:exon299:c.92569+1C>G,NM_133432:exon178:c.70672+1C>G,NM_003319:exon177:c.70297+1C>G,NM_133437:exon178:c.70873+1C>G,NM_133378:exon298:c.89788+1C>G . . 2q31.2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .
315 2 178546102 T C Pathogenic TTN|TTN-AS1 . . . . . . . . . . 2 178546102 178546102 T C exonic TTN . nonsynonymous SNV TTN:NM_003319:exon171:c.T67939G:p.C22647G,TTN:NM_133432:exon172:c.T68314G:p.C22772G,TTN:NM_133437:exon172:c.T68515G:p.C22839G,TTN:NM_133378:exon292:c.T87430G:p.C29144G,TTN:NM_001256850:exon293:c.T90211G:p.C30071G,TTN:NM_001267550:exon343:c.T95134G:p.C31712G 2q31.2 . . 0.382 T 0.959 D 0.721 P . . 1.000 D 1.1 L 0.63 T -7.15 D 0.505 2.009 16.27 0.950 0.966 D -0.803 T 0.175 T 0.563 0 5.82 1.062 1.199 1.000 1.000 16.19 Tolerated
316 2 178549309 C T Pathogenic/Likely pathogenic TTN|TTN-AS1 . . . . . . . . . . 2 178549309 178549309 C T exonic TTN . synonymous SNV TTN:NM_003319:exon167:c.C65122A:p.R21708R,TTN:NM_133432:exon168:c.C65497A:p.R21833R,TTN:NM_133437:exon168:c.C65698A:p.R21900R,TTN:NM_133378:exon288:c.C84613A:p.R28205R,TTN:NM_001256850:exon289:c.C87394A:p.R29132R,TTN:NM_001267550:exon339:c.C92317A:p.R30773R 2q31.2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
317 2 178559309 T A Pathogenic/Likely pathogenic TTN|TTN-AS1 . . . . . . . . . . 2 178559309 178559309 T A splicing TTN NM_001267550:exon326:c.86821+2A>T,NM_001256850:exon276:c.81898+2A>T,NM_133432:exon155:c.60001+2A>T,NM_003319:exon154:c.59626+2A>T,NM_133437:exon155:c.60202+2A>T,NM_133378:exon275:c.79117+2A>T . . 2q31.2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .
318 2 178559695 G T Pathogenic/Likely pathogenic TTN|TTN-AS1 . . . . . . . . . . 2 178559695 178559695 G T exonic TTN . nonsynonymous SNV TTN:NM_003319:exon154:c.G59242A:p.E19748K,TTN:NM_133432:exon155:c.G59617A:p.E19873K,TTN:NM_133437:exon155:c.G59818A:p.E19940K,TTN:NM_133378:exon275:c.G78733A:p.E26245K,TTN:NM_001256850:exon276:c.G81514A:p.E27172K,TTN:NM_001267550:exon326:c.G86437A:p.E28813K 2q31.2 . rs868494032 0.122 T 0.999 D 0.996 D . . 1 D 1.075 L -0.21 T -2.63 D 0.622 3.791 23.4 0.959 0.982 D -0.252 T 0.401 T 0.554 0 5.77 0.871 0.935 1.000 1.000 20.347 Tolerated
319 2 178565095 C T Pathogenic/Likely pathogenic TTN|TTN-AS1 . . . . . . . . . . 2 178565095 178565095 C T exonic TTN . synonymous SNV TTN:NM_003319:exon154:c.C53842A:p.R17948R,TTN:NM_133432:exon155:c.C54217A:p.R18073R,TTN:NM_133437:exon155:c.C54418A:p.R18140R,TTN:NM_133378:exon275:c.C73333A:p.R24445R,TTN:NM_001256850:exon276:c.C76114A:p.R25372R,TTN:NM_001267550:exon326:c.C81037A:p.R27013R 2q31.2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
320 2 178565416 C T Pathogenic/Likely pathogenic TTN|TTN-AS1 . . . . . . . . . . 2 178565416 178565416 C T exonic TTN . synonymous SNV TTN:NM_003319:exon154:c.C53521A:p.R17841R,TTN:NM_133432:exon155:c.C53896A:p.R17966R,TTN:NM_133437:exon155:c.C54097A:p.R18033R,TTN:NM_133378:exon275:c.C73012A:p.R24338R,TTN:NM_001256850:exon276:c.C75793A:p.R25265R,TTN:NM_001267550:exon326:c.C80716A:p.R26906R 2q31.2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
321 2 178567954 G T Pathogenic/Likely pathogenic TTN|TTN-AS1 . . . . . . . . . . 2 178567954 178567954 G T exonic TTN . nonsynonymous SNV TTN:NM_003319:exon154:c.G50983A:p.E16995K,TTN:NM_133432:exon155:c.G51358A:p.E17120K,TTN:NM_133437:exon155:c.G51559A:p.E17187K,TTN:NM_133378:exon275:c.G70474A:p.E23492K,TTN:NM_001256850:exon276:c.G73255A:p.E24419K,TTN:NM_001267550:exon326:c.G78178A:p.E26060K 2q31.2 . . 0.005 D 0.999 D 0.996 D . . 1 D 1.83 L 0.4 T -2.65 D 0.649 3.239 22.8 0.950 0.978 D -0.413 T 0.333 T 0.487 0 5.58 0.871 0.935 1.000 1.000 19.564 Tolerated
322 2 178574530 C T Pathogenic/Likely pathogenic TTN|TTN-AS1 . . . . . . . . . . 2 178574530 178574530 C T exonic TTN . synonymous SNV TTN:NM_003319:exon154:c.C44407A:p.R14803R,TTN:NM_133432:exon155:c.C44782A:p.R14928R,TTN:NM_133437:exon155:c.C44983A:p.R14995R,TTN:NM_133378:exon275:c.C63898A:p.R21300R,TTN:NM_001256850:exon276:c.C66679A:p.R22227R,TTN:NM_001267550:exon326:c.C71602A:p.R23868R 2q31.2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
323 2 178574811 G A Pathogenic/Likely pathogenic TTN|TTN-AS1 . . . . . . . . . . 2 178574811 178574811 G A exonic TTN . nonsynonymous SNV TTN:NM_003319:exon154:c.G44126T:p.W14709L,TTN:NM_133432:exon155:c.G44501T:p.W14834L,TTN:NM_133437:exon155:c.G44702T:p.W14901L,TTN:NM_133378:exon275:c.G63617T:p.W21206L,TTN:NM_001256850:exon276:c.G66398T:p.W22133L,TTN:NM_001267550:exon326:c.G71321T:p.W23774L 2q31.2 . . 0.008 D 1.0 D 0.998 D . . 1 D 3.485 M 0.37 T -9.37 D 0.557 2.238 17.76 0.695 0.947 D 0.127 D 0.474 T 0.554 0 5.6 0.871 0.935 0.998 0.170 19.603 Tolerated
324 2 178578066 C T Pathogenic/Likely pathogenic TTN|TTN-AS1 . . . . . . . . . . 2 178578066 178578066 C T exonic TTN . synonymous SNV TTN:NM_003319:exon150:c.C41254A:p.R13752R,TTN:NM_133432:exon151:c.C41629A:p.R13877R,TTN:NM_133437:exon151:c.C41830A:p.R13944R,TTN:NM_133378:exon271:c.C60745A:p.R20249R,TTN:NM_001256850:exon272:c.C63526A:p.R21176R,TTN:NM_001267550:exon322:c.C68449A:p.R22817R 2q31.2 8.3e-05 rs371678190 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
325 2 178579702 C T Pathogenic/Likely pathogenic TTN|TTN-AS1 . . . . . . . . . . 2 178579702 178579702 C T exonic TTN . synonymous SNV TTN:NM_003319:exon147:c.C40300A:p.R13434R,TTN:NM_133432:exon148:c.C40675A:p.R13559R,TTN:NM_133437:exon148:c.C40876A:p.R13626R,TTN:NM_133378:exon268:c.C59791A:p.R19931R,TTN:NM_001256850:exon269:c.C62572A:p.R20858R,TTN:NM_001267550:exon319:c.C67495A:p.R22499R 2q31.2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
326 2 178588700 C T Pathogenic/Likely pathogenic TTN|TTN-AS1 . . . . . . . . . . 2 178588700 178588700 C T exonic TTN . synonymous SNV TTN:NM_003319:exon132:c.C35830A:p.R11944R,TTN:NM_133432:exon133:c.C36205A:p.R12069R,TTN:NM_133437:exon133:c.C36406A:p.R12136R,TTN:NM_133378:exon253:c.C55321A:p.R18441R,TTN:NM_001256850:exon254:c.C58102A:p.R19368R,TTN:NM_001267550:exon304:c.C63025A:p.R21009R 2q31.2 8.3e-05 rs368452607 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
327 2 178589508 T A Pathogenic/Likely pathogenic TTN|TTN-AS1 . . . . . . . . . . 2 178589508 178589508 T A exonic TTN . synonymous SNV TTN:NM_003319:exon132:c.T35022T:p.Y11674Y,TTN:NM_133432:exon133:c.T35397T:p.Y11799Y,TTN:NM_133437:exon133:c.T35598T:p.Y11866Y,TTN:NM_133378:exon253:c.T54513T:p.Y18171Y,TTN:NM_001256850:exon254:c.T57294T:p.Y19098Y,TTN:NM_001267550:exon304:c.T62217T:p.Y20739Y 2q31.2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
328 2 178589849 C T Pathogenic/Likely pathogenic TTN|TTN-AS1 . . . . . . . . . . 2 178589849 178589849 C T exonic TTN . synonymous SNV TTN:NM_003319:exon132:c.C34681A:p.R11561R,TTN:NM_133432:exon133:c.C35056A:p.R11686R,TTN:NM_133437:exon133:c.C35257A:p.R11753R,TTN:NM_133378:exon253:c.C54172A:p.R18058R,TTN:NM_001256850:exon254:c.C56953A:p.R18985R,TTN:NM_001267550:exon304:c.C61876A:p.R20626R 2q31.2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
329 2 178605642 G T Pathogenic/Likely pathogenic TTN|TTN-AS1 . . . . . . . . . . 2 178605642 178605642 G T exonic TTN . nonsynonymous SNV TTN:NM_003319:exon107:c.G26458A:p.E8820K,TTN:NM_133432:exon108:c.G26833A:p.E8945K,TTN:NM_133437:exon108:c.G27034A:p.E9012K,TTN:NM_133378:exon228:c.G45949A:p.E15317K,TTN:NM_001256850:exon229:c.G48730A:p.E16244K,TTN:NM_001267550:exon279:c.G53653A:p.E17885K 2q31.2 . . 0.722 T 0.081 B 0.061 B . . 0.541 N -0.66 N 0.43 T -1.73 N 0.417 3.299 22.9 0.963 0.948 D -0.941 T 0.077 T 0.554 0 4.73 -0.064 0.852 0.872 1.000 14.921 Tolerated
330 2 188990114 G A Pathogenic COL3A1 . . . . . . . . . . 2 188990114 188990114 G A exonic COL3A1 . nonsynonymous SNV COL3A1:NM_000090:exon9:c.G709A:p.G237R 2q32.2 . rs587779625 0.0 D 1.0 D 1.0 D 0.000 D 1 D 3.65 H -6.29 D -6.63 D 0.96 6.035 28.0 0.998 0.998 D 0.995 D 0.991 D 0.554 0 5.57 0.917 0.998 0.998 0.980 19.904 Deleterious
331 2 188996179 G A Pathogenic COL3A1 . . . . . . . . . . 2 188996179 188996179 G A splicing COL3A1 NM_000090:exon23:c.1662+1G>A . . 2q32.2 . rs587779535 . . . . . . . . 1 D . . . . . . . 5.301 25.8 0.994 0.993 D . . . . 0.075 0 5.61 0.917 1.048 0.983 0.293 19.634 Deleterious (FATHMM)
332 2 199349027 C T Pathogenic SATB2 . . . . . . . . . . 2 199349027 199349027 C T exonic SATB2 . synonymous SNV SATB2:NM_001172509:exon7:c.C847A:p.R283R,SATB2:NM_001172517:exon8:c.C847A:p.R283R,SATB2:NM_015265:exon8:c.C847A:p.R283R 2q33.1 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
333 2 202530955 G A Pathogenic BMPR2 . . . . . . . . . . 2 202530955 202530955 G A splicing BMPR2 NM_001204:exon8:c.1128+1G>A . . 2q33.2 . rs863223420 . . . . . . . . 1 D . . . . . . . 5.613 26.5 0.995 0.998 D . . . . 0.295 0 5.7 0.917 0.994 0.988 0.977 18.014 Deleterious (FATHMM)
334 2 214730491 C T Pathogenic BARD1 . . . . . . . . . . 2 214730491 214730491 C T exonic BARD1 . synonymous SNV BARD1:NM_001282549:exon4:c.C382A:p.R128R,BARD1:NM_001282548:exon5:c.C511A:p.R171R,BARD1:NM_001282545:exon6:c.C568A:p.R190R,BARD1:NM_001282543:exon9:c.C1864A:p.R622R,BARD1:NM_000465:exon10:c.C1921A:p.R641R 2q35 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
335 2 214745842 C T Pathogenic BARD1 . . . . . . . . . . 2 214745842 214745842 C T exonic BARD1 . nonsynonymous SNV BARD1:NM_001282548:exon3:c.C280A:p.Q94K,BARD1:NM_001282545:exon4:c.C337A:p.Q113K,BARD1:NM_001282543:exon7:c.C1633A:p.Q545K,BARD1:NM_000465:exon8:c.C1690A:p.Q564K 2q35 . . 0.143 T 0.839 P 0.298 B 0.367 N 0.938 N 2.175 M -0.71 T -1.48 N 0.409 1.942 15.85 0.978 0.907 D -0.368 T 0.513 D 0.732 0 3.46 0.069 0.980 0.140 0.102 12.417 Deleterious
336 2 214752472 C G Pathogenic BARD1 . . . . . . . . . . 2 214752472 214752472 C G exonic BARD1 . synonymous SNV BARD1:NM_001282548:exon2:c.C242C:p.S81S,BARD1:NM_001282545:exon3:c.C299C:p.S100S,BARD1:NM_001282543:exon6:c.C1595C:p.S532S,BARD1:NM_000465:exon7:c.C1652C:p.S551S 2q35 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
337 2 214780662 C G Pathogenic BARD1 . . . . . . . . . . 2 214780662 214780662 C G exonic BARD1 . synonymous SNV BARD1:NM_001282543:exon3:c.C1155C:p.Y385Y,BARD1:NM_000465:exon4:c.C1212C:p.Y404Y 2q35 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
338 2 214781426 C T Pathogenic BARD1 . . . . . . . . . . 2 214781426 214781426 C T exonic BARD1 . synonymous SNV BARD1:NM_001282543:exon3:c.C391A:p.R131R,BARD1:NM_000465:exon4:c.C448A:p.R150R 2q35 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
339 2 214792327 C T Pathogenic BARD1 . . . . . . . . . . 2 214792327 214792327 C T exonic BARD1 . synonymous SNV BARD1:NM_001282543:exon2:c.C277A:p.R93R,BARD1:NM_000465:exon3:c.C334A:p.R112R,BARD1:NM_001282549:exon3:c.C334A:p.R112R 2q35 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
340 2 218661153 C T Pathogenic BCS1L . . . . . . . . . . 2 218661153 218661153 C T exonic BCS1L . stopgain BCS1L:NM_001079866:exon2:c.C166T:p.R56X,BCS1L:NM_001257344:exon2:c.C166T:p.R56X,BCS1L:NM_001257342:exon3:c.C166T:p.R56X,BCS1L:NM_001257343:exon3:c.C166T:p.R56X,BCS1L:NM_004328:exon3:c.C166T:p.R56X 2q35 . rs121908576 . . . . . . 0.000 D 1 A . . . . . . . 9.631 36 0.996 0.768 D . . . . 0.722 0 2.23 -0.662 0.020 0.878 0.997 13.337 Deleterious (FATHMM)
341 2 218814186 C T Pathogenic CYP27A1 . . . . . . . . . . 2 218814186 218814186 C T exonic CYP27A1 . nonsynonymous SNV CYP27A1:NM_000784:exon6:c.C1183T:p.R395C 2q35 7.7e-05 rs121908096 0.001 D 1.0 D 1.0 D 0.000 D 1 D 3.805 H -4.41 D -7.45 D 0.972 7.874 35 0.999 0.689 D 1.092 D 0.964 D 0.732 0 5.76 0.871 0.935 0.987 0.997 14.458 Deleterious
342 2 218882368 C A Pathogenic WNT10A . . . . . . . . . . 2 218882368 218882368 C A exonic WNT10A . stopgain WNT10A:NM_025216:exon2:c.C321A:p.C107X 2q35 0.0010 rs121908119 . . . . . . 0.000 D 1 A . . . . . . . 9.734 36 0.995 0.948 D . . . . 0.628 0 2.9 -0.041 0.935 0.998 1.000 10.635 Deleterious (FATHMM)
343 2 219418500 C T Pathogenic DES . . . . . . . . . . 2 219418500 219418500 C T exonic DES . nonsynonymous SNV DES:NM_001927:exon1:c.C38T:p.S13F 2q35 . rs62636495 0.0 D 0.997 D 0.995 D 0.000 D 1 D 2.485 M -2.36 D -3.55 D 0.963 4.909 25.0 0.995 0.980 D 0.830 D 0.829 D 0.598 0 5.12 0.871 0.870 1.000 1.000 18.536 Deleterious
344 2 219420347 G A Pathogenic/Likely pathogenic DES . . . . . . . . . . 2 219420347 219420347 G A splicing DES NM_001927:exon3:c.735+1G>A . . 2q35 . rs397516698 . . . . . . . . 1 D . . . . . . . 5.093 25.3 0.995 0.994 D . . . . 0.066 0 4.38 0.917 0.953 0.988 0.825 17.138 Deleterious (FATHMM)
345 2 219421532 C T Pathogenic/Likely pathogenic, not provided DES . . . . . . . . . . 2 219421532 219421532 C T exonic DES . nonsynonymous SNV DES:NM_001927:exon6:c.C1216T:p.R406W 2q35 . rs121913003 0.0 D 1.0 D 0.999 D 0.021 N 0.991 A 4.255 H -3.53 D -6.77 D 0.953 7.329 34 0.999 0.881 D 1.096 D 0.942 D 0.646 0 2.06 0.871 0.852 1.000 1.000 13.614 Deleterious
346 2 219423817 C T Pathogenic/Likely pathogenic DES . . . . . . . . . . 2 219423817 219423817 C T exonic DES . stopgain DES:NM_001927:exon7:c.C1285T:p.R429X 2q35 7.7e-05 rs150974575 . . . . . . 0.001 D 1 A . . . . . . . 14.351 45 0.997 0.959 D . . . . 0.615 0 5.02 -0.058 0.935 0.999 1.000 16.936 Deleterious (FATHMM)
347 2 219425734 C T Pathogenic/Likely pathogenic, not provided DES . . . . . . . . . . 2 219425734 219425734 C T exonic DES . nonsynonymous SNV DES:NM_001927:exon8:c.C1360T:p.R454W 2q35 . rs267607490 0.0 D 1.0 D 0.995 D 0.003 N 1.000 D 3.195 M -6.47 D -6.27 D 0.927 8.329 35 0.999 0.952 D 0.978 D 0.990 D 0.624 0 4.46 0.871 0.935 1.000 0.997 16.935 Deleterious
348 2 223959821 T G Pathogenic/Likely pathogenic MRPL44 . . . . . . . . . . 2 223959821 223959821 T G exonic MRPL44 . nonsynonymous SNV MRPL44:NM_022915:exon2:c.T467G:p.L156R 2q36.1 0.0002 rs143697995 0.002 D 0.989 D 0.814 P 0.002 N 0.803 N 2.36 M 0.77 T -4.62 D 0.961 4.928 25.0 0.997 0.983 D -0.511 T 0.258 T 0.722 0 5.7 0.991 1.061 0.437 0.375 13.923 Tolerated
349 2 227695907 T G Pathogenic/Likely pathogenic SLC19A3 . . . . . . . . . . 2 227695907 227695907 T G exonic SLC19A3 . nonsynonymous SNV SLC19A3:NM_025243:exon4:c.T1154C:p.L385P 2q36.3 . rs563607795 0.001 D 1.0 D 0.992 D 0.000 D 1 D 2.885 M -2.5 D -6.21 D 0.89 7.026 33 0.999 0.990 D 0.866 D 0.833 D 0.638 0 5.03 1.003 1.199 0.998 0.995 14.927 Deleterious
350 2 237360087 G A Pathogenic COL6A3 . . . . . . . . . . 2 237360087 237360087 G A splicing COL6A3 NM_057166:exon14:c.4461+1C>T,NM_057167:exon16:c.5664+1C>T,NM_004369:exon17:c.6282+1C>T . . 2q37.3 . . . . . . . . . . 1 D . . . . . . . 5.079 25.3 0.994 0.979 D . . . . 0.077 0 5.22 0.871 0.935 0.766 0.643 17.788 Deleterious (FATHMM)
351 2 237361176 A C Pathogenic COL6A3 . . . . . . . . . . 2 237361176 237361176 A C splicing COL6A3 NM_057166:exon13:c.4336-2T>G,NM_057167:exon15:c.5539-2T>G,NM_004369:exon16:c.6157-2T>G . . 2q37.3 . . . . . . . . . . 1 D . . . . . . . 3.541 23.1 0.989 0.996 D . . . . 0.075 0 5.22 0.991 1.061 0.961 0.059 15.135 Deleterious (FATHMM)
352 2 240775863 C T Pathogenic/Likely pathogenic KIF1A . . . . . . . . . . 2 240775863 240775863 C T exonic KIF1A . synonymous SNV KIF1A:NM_004321:exon10:c.C946A:p.R316R,KIF1A:NM_001244008:exon11:c.C946A:p.R316R 2q37.3 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
353 2 240788118 C T Pathogenic KIF1A . . . . . . . . . . 2 240788118 240788118 C T exonic KIF1A . nonsynonymous SNV KIF1A:NM_004321:exon3:c.C296A:p.T99K,KIF1A:NM_001244008:exon4:c.C296A:p.T99K 2q37.3 . . 0.0 D 1.0 D 0.999 D 0.000 U 1 D 4.96 H -1.61 D -5.12 D 0.941 6.858 33 0.994 0.949 D 1.074 D 0.868 D 0.672 0 4.79 0.917 0.953 0.862 0.989 17.829 Deleterious
354 2 240797715 G A Pathogenic/Likely pathogenic KIF1A . . . . . . . . . . 2 240797715 240797715 G A exonic KIF1A . nonsynonymous SNV KIF1A:NM_004321:exon1:c.G38T:p.R13L,KIF1A:NM_001244008:exon2:c.G38T:p.R13L 2q37.3 . . 0.0 D 1.0 D 0.999 D 0.000 U 1 D 4.775 H -3.51 D -5.93 D 0.877 7.776 35 0.999 0.989 D 1.093 D 0.959 D 0.646 0 4.78 0.871 0.892 0.998 1.000 17.769 Deleterious
355 3 8733956 G A Pathogenic CAV3|SSUH2 . . . . . . . . . . 3 8733956 8733956 G A exonic CAV3 . nonsynonymous SNV CAV3:NM_001234:exon1:c.G80A:p.R27Q,CAV3:NM_033337:exon1:c.G80A:p.R27Q 3p25.3 . rs116840778 0.0 D 1.0 D 1.0 D 0.000 D 1.000 D 3.37 M -4.27 D -3.72 D 0.912 7.372 34 1.000 0.951 D 1.100 D 0.958 D 0.497 0 5.24 0.917 1.048 0.999 0.995 15.571 Deleterious
356 3 8745688 G A Pathogenic/Likely pathogenic, not provided CAV3 . . . . . . . . . . 3 8745688 8745688 G A exonic CAV3 . nonsynonymous SNV CAV3:NM_001234:exon2:c.G277A:p.A93T,CAV3:NM_033337:exon2:c.G277A:p.A93T 3p25.3 . rs28936686 0.001 D 1.0 D 0.999 D 0.000 D 1 D 3.32 M -3.73 D -3.87 D 0.977 7.102 33 0.999 0.983 D 1.090 D 0.941 D 0.428 0 4.79 0.917 0.998 0.998 0.999 16.561 Deleterious
357 3 10142041 C T Pathogenic VHL . . . . . . . . . . 3 10142041 10142041 C T exonic VHL . nonsynonymous SNV VHL:NM_000551:exon1:c.C194T:p.S65L,VHL:NM_198156:exon1:c.C194T:p.S65L 3p25.3 . rs5030826 0.188 T 0.93 P 0.213 B 0.000 N 0.935 D 2.66 M -7.02 D -4.27 D 0.954 6.524 31 0.999 0.982 D 1.098 D 0.976 D 0.442 0 4.67 0.868 0.782 0.927 0.992 12.339 Deleterious
358 3 10142080 A G Pathogenic VHL . . . . . . . . . . 3 10142080 10142080 A G exonic VHL . nonsynonymous SNV VHL:NM_000551:exon1:c.A233G:p.N78S,VHL:NM_198156:exon1:c.A233G:p.N78S 3p25.3 . rs5030804 0.0 D 0.994 D 0.851 P 0.000 D 0.993 D 2.715 M -9.18 D -3.61 D 0.478 5.787 27.1 0.998 0.978 D 0.792 D 0.998 D 0.442 0 5.43 1.058 0.996 0.988 0.993 13.502 Deleterious
359 3 10142113 T C Pathogenic/Likely pathogenic VHL . . . . . . . . . . 3 10142113 10142113 T C exonic VHL . nonsynonymous SNV VHL:NM_000551:exon1:c.T266C:p.L89P,VHL:NM_198156:exon1:c.T266C:p.L89P 3p25.3 . rs5030807 0.001 D 0.999 D 0.974 D 0.000 D 1.000 D 1.28 L -6.9 D -4.35 D 0.959 6.161 28.5 0.999 0.968 D 1.012 D 0.984 D 0.442 0 5.06 0.987 0.884 0.982 0.991 12.845 Deleterious
360 3 10142139 T C Pathogenic VHL . . . . . . . . . . 3 10142139 10142139 T C exonic VHL . nonsynonymous SNV VHL:NM_000551:exon1:c.T292C:p.Y98H,VHL:NM_198156:exon1:c.T292C:p.Y98H 3p25.3 . rs5030809 0.043 D 1.0 D 0.999 D 0.000 D 0.925 A 2.7 M -8.94 D -3.03 D 0.903 6.048 28.0 0.998 0.983 D 0.805 D 0.998 D 0.442 0 5.16 0.987 0.884 0.968 0.932 13.023 Deleterious
361 3 10149786 G A Pathogenic VHL . . . . . . . . . . 3 10149786 10149786 G A splicing VHL NM_198156:exon2:c.341-1G>A,NM_000551:exon3:c.464-1G>A . . 3p25.3 . rs5030817 . . . . . . . . 1 D . . . . . . . 4.204 23.9 0.993 0.906 D . . . . 0.257 0 4.58 0.917 1.048 0.983 0.954 15.277 Deleterious (FATHMM)
362 3 10149804 C T Pathogenic VHL . . . . . . . . . . 3 10149804 10149804 C T exonic VHL . stopgain VHL:NM_198156:exon2:c.C358T:p.R120X,VHL:NM_000551:exon3:c.C481T:p.R161X 3p25.3 . rs5030818 . . . . . . 0.000 D 1 D . . . . . . . 12.771 40 0.994 0.739 D . . . . 0.722 0 2.94 -0.058 0.067 0.991 0.998 11.948 Deleterious (FATHMM)
363 3 10149820 T C Pathogenic VHL . . . . . . . . . . 3 10149820 10149820 T C exonic VHL . nonsynonymous SNV VHL:NM_198156:exon2:c.T374C:p.V125A,VHL:NM_000551:exon3:c.T497C:p.V166A 3p25.3 . rs397516445 0.008 D 0.934 P 0.764 P 0.000 D 0.998 D 1.87 L -6.95 D -2.2 N 0.916 4.602 24.4 0.998 0.899 D 1.009 D 0.984 D 0.722 0 4.86 0.991 1.061 0.974 0.993 12.722 Deleterious
364 3 10149822 C T Pathogenic VHL . . . . . . . . . . 3 10149822 10149822 C T exonic VHL . nonsynonymous SNV VHL:NM_198156:exon2:c.C376T:p.R126W,VHL:NM_000551:exon3:c.C499T:p.R167W 3p25.3 . rs5030820 0.0 D 1.0 D 1.0 D 0.000 D 0.999 D 2.095 M -7.05 D -5.23 D 0.965 7.743 35 0.999 0.820 D 1.019 D 0.988 D 0.722 0 3.97 0.871 0.935 0.942 0.981 10.407 Deleterious
365 3 10149823 G A Pathogenic VHL . . . . . . . . . . 3 10149823 10149823 G A exonic VHL . nonsynonymous SNV VHL:NM_198156:exon2:c.G377A:p.R126Q,VHL:NM_000551:exon3:c.G500A:p.R167Q 3p25.3 . rs5030821 0.0 D 1.0 D 0.997 D 0.000 D 0.999 A 2.095 M -6.98 D -2.78 D 0.926 7.514 34 1.000 0.928 D 0.975 D 0.989 D 0.722 0 4.86 0.917 1.048 0.942 0.977 15.866 Deleterious
366 3 10149885 C G Pathogenic VHL . . . . . . . . . . 3 10149885 10149885 C G exonic VHL . nonsynonymous SNV VHL:NM_198156:exon2:c.C439G:p.L147V,VHL:NM_000551:exon3:c.C562G:p.L188V 3p25.3 . rs5030824 0.0 D 0.999 D 0.994 D 0.000 D 0.988 A 2.25 M -7.24 D -1.85 N 0.9 5.747 26.9 0.998 0.817 D 1.030 D 0.990 D 0.722 0 2.73 0.008 0.077 0.981 0.991 8.285 Deleterious
367 3 12584624 C G Pathogenic RAF1 . . . . . . . . . . 3 12584624 12584624 C G exonic RAF1 . synonymous SNV RAF1:NM_002880:exon17:c.C1837C:p.L613L 3p25.2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
368 3 12585745 C T Pathogenic RAF1 . . . . . . . . . . 3 12585745 12585745 C T exonic RAF1 . nonsynonymous SNV RAF1:NM_002880:exon14:c.C1472A:p.T491K 3p25.2 . . 0.001 D 1.0 D 0.995 D 0.000 D 1 D -0.715 N -1.5 D -5.21 D 0.952 7.116 34 0.994 0.989 D 0.136 D 0.415 T 0.722 0 5.26 0.917 1.048 1.000 0.998 19.066 Tolerated
369 3 12599717 G C Pathogenic/Likely pathogenic RAF1 . . . . . . . . . . 3 12599717 12599717 G C exonic RAF1 . synonymous SNV RAF1:NM_002880:exon10:c.G1082G:p.G361G 3p25.2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
370 3 12604182 T G Pathogenic/Likely pathogenic RAF1 . . . . . . . . . . 3 12604182 12604182 T G exonic RAF1 . nonsynonymous SNV RAF1:NM_002880:exon7:c.T788C:p.V263A 3p25.2 . . 0.001 D 0.94 P 0.76 P 0.000 D 1 D 2.54 M -0.96 T -2.32 N 0.935 3.753 23.3 0.987 0.930 D 0.174 D 0.536 D 0.707 0 5.73 1.062 1.199 1.000 1.000 16.312 Deleterious
371 3 12604184 T A Pathogenic RAF1 . . . . . . . . . . 3 12604184 12604184 T A exonic RAF1 . synonymous SNV RAF1:NM_002880:exon7:c.T786T:p.N262N 3p25.2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
372 3 12604188 C G Pathogenic RAF1 . . . . . . . . . . 3 12604188 12604188 C G exonic RAF1 . synonymous SNV RAF1:NM_002880:exon7:c.C782C:p.P261P 3p25.2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
373 3 12604189 C G Pathogenic/Likely pathogenic RAF1 . . . . . . . . . . 3 12604189 12604189 C G exonic RAF1 . synonymous SNV RAF1:NM_002880:exon7:c.C781C:p.P261P 3p25.2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
374 3 12604189 C T Pathogenic RAF1 . . . . . . . . . . 3 12604189 12604189 C T exonic RAF1 . nonsynonymous SNV RAF1:NM_002880:exon7:c.C781A:p.P261T 3p25.2 . rs121434594 0.024 D 1.0 D 0.997 D 0.000 D 1 D 2.56 M -0.99 T -4.87 D 0.942 5.192 25.5 0.997 0.939 D 0.387 D 0.670 D 0.707 0 5.73 0.917 1.048 0.989 1.000 20.260 Deleterious
375 3 12604195 T A Pathogenic/Likely pathogenic RAF1 . . . . . . . . . . 3 12604195 12604195 T A exonic RAF1 . synonymous SNV RAF1:NM_002880:exon7:c.T775T:p.S259S 3p25.2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
376 3 12604200 C T Pathogenic RAF1 . . . . . . . . . . 3 12604200 12604200 C T exonic RAF1 . stopgain RAF1:NM_002880:exon7:c.C770A:p.S257X 3p25.2 . . . . . . . . 0.000 D 1 A . . . . . . . 12.388 39 0.995 0.939 D . . . . 0.707 0 5.73 0.917 1.048 0.990 0.995 20.260 Deleterious (FATHMM)
377 3 12604201 T C Pathogenic/Likely pathogenic RAF1 . . . . . . . . . . 3 12604201 12604201 T C exonic RAF1 . nonsynonymous SNV RAF1:NM_002880:exon7:c.T769G:p.S257A 3p25.2 . . 0.002 D 0.969 D 0.694 P 0.000 D 1 D 2.56 M -0.98 T -1.94 N 0.675 3.932 23.5 0.993 0.933 D 0.235 D 0.557 D 0.707 0 5.73 1.062 1.199 0.994 0.998 16.312 Deleterious
378 3 12604202 G T Pathogenic/Likely pathogenic RAF1 . . . . . . . . . . 3 12604202 12604202 G T exonic RAF1 . synonymous SNV RAF1:NM_002880:exon7:c.G768A:p.R256R 3p25.2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
379 3 14141665 C T Pathogenic TMEM43 . . . . . . . . . . 3 14141665 14141665 C T exonic TMEM43 . nonsynonymous SNV TMEM43:NM_024334:exon12:c.C1073T:p.S358L 3p25.1 . rs63750743 0.007 D 1.0 D 0.962 D 0.000 D 1 A 1.79 L 1.28 T -4.1 D 0.978 7.793 35 0.999 0.949 D -0.810 T 0.211 T 0.722 0 5.71 0.871 0.888 0.952 0.981 19.852 Tolerated
380 3 15644326 G A Pathogenic BTD . . . . . . . . . . 3 15644326 15644326 G A exonic BTD . nonsynonymous SNV BTD:NM_000060:exon4:c.G470A:p.R157H,BTD:NM_001281723:exon4:c.G476A:p.R159H,BTD:NM_001281725:exon4:c.G410A:p.R137H,BTD:NM_001281724:exon6:c.G476A:p.R159H 3p25.1 0.0002 rs146015592 0.041 D 0.185 B 0.056 B 0.000 D 0.999 D 2.325 M -2.34 D -3.64 D 0.828 3.494 23.1 0.997 0.967 D 0.101 D 0.639 D 0.706 0 5.95 0.917 1.048 0.999 1.000 20.385 Deleterious
381 3 15644367 G A Pathogenic BTD . . . . . . . . . . 3 15644367 15644367 G A exonic BTD . nonsynonymous SNV BTD:NM_000060:exon4:c.G511A:p.A171T,BTD:NM_001281723:exon4:c.G517A:p.A173T,BTD:NM_001281725:exon4:c.G451A:p.A151T,BTD:NM_001281724:exon6:c.G517A:p.A173T 3p25.1 0.0004 rs13073139 0.002 D 1.0 D 1.0 D 0.000 D 1 A 3.185 M -2.51 D -3.7 D 0.942 6.685 32 0.999 0.996 D 0.836 D 0.868 D 0.706 0 5.95 0.917 1.048 1.000 1.000 20.385 Deleterious
382 3 15645186 G C Pathogenic BTD . . . . . . . . . . 3 15645186 15645186 G C exonic BTD . nonsynonymous SNV BTD:NM_000060:exon4:c.G1330C:p.D444H,BTD:NM_001281723:exon4:c.G1336C:p.D446H,BTD:NM_001281725:exon4:c.G1270C:p.D424H,BTD:NM_001281724:exon6:c.G1336C:p.D446H 3p25.1 0.0301 rs13078881 0.003 D 1.0 D 0.987 D 0.012 N 0.992 A 2.99 M -3.72 D -5.48 D 0.817 2.820 21.5 0.990 0.932 D 0.464 D 0.757 D 0.706 0 3.8 0.917 0.138 0.991 0.501 12.205 Deleterious
383 3 15645224 A C Pathogenic BTD . . . . . . . . . . 3 15645224 15645224 A C exonic BTD . nonsynonymous SNV BTD:NM_000060:exon4:c.A1368C:p.Q456H,BTD:NM_001281723:exon4:c.A1374C:p.Q458H,BTD:NM_001281725:exon4:c.A1308C:p.Q436H,BTD:NM_001281724:exon6:c.A1374C:p.Q458H 3p25.1 0.0010 rs80338685 0.001 D 1.0 D 0.987 D 0.000 D 1.000 A 3.055 M -2.47 D -4.55 D 0.987 3.362 22.9 0.989 0.804 D 0.800 D 0.813 D 0.706 0 -2.26 0.110 -0.530 0.525 0.003 13.912 Deleterious
384 3 15645451 C T Pathogenic BTD . . . . . . . . . . 3 15645451 15645451 C T exonic BTD . nonsynonymous SNV BTD:NM_000060:exon4:c.C1595T:p.T532M,BTD:NM_001281723:exon4:c.C1601T:p.T534M,BTD:NM_001281725:exon4:c.C1535T:p.T512M,BTD:NM_001281724:exon6:c.C1601T:p.T534M 3p25.1 0.0002 rs104893688 0.027 D 1.0 D 0.995 D 0.000 D 1 A 2.61 M -2.92 D -4.11 D 0.958 6.473 30 0.999 0.954 D 0.974 D 0.868 D 0.615 0 4.71 0.871 0.071 0.993 0.262 14.286 Deleterious
385 3 25733931 A T Pathogenic NGLY1 . . . . . . . . . . 3 25733931 25733931 A T exonic NGLY1 . synonymous SNV NGLY1:NM_001145293:exon8:c.A1147A:p.R383R,NGLY1:NM_001145294:exon8:c.A1075A:p.R359R,NGLY1:NM_001145295:exon8:c.A1201A:p.R401R,NGLY1:NM_018297:exon8:c.A1201A:p.R401R 3p24.2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
386 3 30674228 C T Pathogenic TGFBR2 . . . . . . . . . . 3 30674228 30674228 C T exonic TGFBR2 . nonsynonymous SNV TGFBR2:NM_003242:exon5:c.C1378T:p.R460C,TGFBR2:NM_001024847:exon6:c.C1453T:p.R485C 3p24.1 . rs104893811 0.0 D 1.0 D 1.0 D 0.000 D 1 A 2.695 M -3.29 D -7.84 D 0.964 7.824 35 0.999 0.894 D 0.998 D 0.908 D 0.722 0 5.75 0.853 0.935 0.998 0.990 19.966 Deleterious
387 3 30688470 C T Pathogenic/Likely pathogenic TGFBR2 . . . . . . . . . . 3 30688470 30688470 C T exonic TGFBR2 . stopgain TGFBR2:NM_003242:exon6:c.C1483T:p.R495X,TGFBR2:NM_001024847:exon7:c.C1558T:p.R520X 3p24.1 . rs104893819 . . . . . . 0.000 D 1 A . . . . . . . 12.847 40 0.996 0.866 D . . . . 0.722 0 3.53 0.853 0.015 0.998 0.938 13.633 Deleterious (FATHMM)
388 3 30688476 C T Pathogenic TGFBR2 . . . . . . . . . . 3 30688476 30688476 C T exonic TGFBR2 . stopgain TGFBR2:NM_003242:exon6:c.C1489T:p.R497X,TGFBR2:NM_001024847:exon7:c.C1564T:p.R522X 3p24.1 . rs863223852 . . . . . . 0.000 D 1 D . . . . . . . 15.020 49 0.998 0.886 D . . . . 0.722 0 5.38 0.853 0.892 0.955 0.967 14.351 Deleterious (FATHMM)
389 3 30691478 G A Pathogenic TGFBR2 . . . . . . . . . . 3 30691478 30691478 G A exonic TGFBR2 . nonsynonymous SNV TGFBR2:NM_003242:exon7:c.G1583A:p.R528H,TGFBR2:NM_001024847:exon8:c.G1658A:p.R553H 3p24.1 . rs104893815 0.0 D 1.0 D 1.0 D 0.000 D 1 A 4.25 H -5.65 D -4.72 D 0.979 7.614 34 0.999 0.983 D 0.993 D 0.990 D 0.731 0 5.91 0.897 1.048 0.995 0.887 20.286 Deleterious
390 3 32159096 C T Pathogenic/Likely pathogenic GPD1L . . . . . . . . . . 3 32159096 32159096 C T exonic GPD1L . nonsynonymous SNV GPD1L:NM_015141:exon6:c.C839T:p.A280V 3p22.3 7.7e-05 rs72552291 0.832 T 0.001 B 0.004 B 0.002 N 0.988 A 0.405 N -0.04 T 0.29 N 0.161 0.097 3.573 0.230 0.546 D -0.965 T 0.102 T 0.615 0 3.42 0.031 0.918 0.996 0.861 9.107 Tolerated
391 3 33058220 G A Pathogenic GLB1 . . . . . . . . . . 3 33058220 33058220 G A exonic GLB1 . nonsynonymous SNV GLB1:NM_000404:exon6:c.G602T:p.R201L,GLB1:NM_001079811:exon6:c.G512T:p.R171L,GLB1:NM_001317040:exon7:c.G746T:p.R249L 3p22.3 . . 0.2 T 0.319 B 0.121 B 0.000 D 1 D 1.525 L -4.74 D -4.61 D 0.857 6.194 28.6 0.997 0.984 D 0.768 D 0.872 D 0.745 0 5.57 0.871 0.852 0.873 0.859 19.517 Deleterious
392 3 33114550 C A Pathogenic CRTAP . . . . . . . . . . 3 33114550 33114550 C A splicing CRTAP NM_006371:exon1:c.471+2C>A . . 3p22.3 . rs137853943 . . . . . . . . 1 D . . . . . . . 3.463 23.0 0.890 0.902 D . . . . 0.047 1 0.989 -0.379 -0.067 0.807 0.869 2.645 Deleterious (FATHMM)
393 3 36996617 A G Pathogenic MLH1 . . . . . . . . . . 3 36996617 36996617 A G splicing MLH1 NM_001258271:exon2:c.117-2A>G,NM_000249:exon2:c.117-2A>G . . 3p22.2 . rs267607712 . . . . . . . . 1 D . . . . . . . 5.333 25.8 0.995 0.994 D . . . . 0.295 0 5.55 1.062 1.187 0.997 1.000 14.967 Deleterious (FATHMM)
394 3 37050588 G T Pathogenic MLH1 . . . . . . . . . . 3 37050588 37050588 G T exonic MLH1 . stopgain MLH1:NM_001258271:exon17:c.G1999T:p.E667X,MLH1:NM_001167619:exon18:c.G1483T:p.E495X,MLH1:NM_001258273:exon18:c.G1483T:p.E495X,MLH1:NM_000249:exon19:c.G2206T:p.E736X,MLH1:NM_001167617:exon19:c.G1912T:p.E638X,MLH1:NM_001167618:exon19:c.G1483T:p.E495X,MLH1:NM_001258274:exon20:c.G1483T:p.E495X 3p22.2 . . . . . . . . 0.000 D 1 D . . . . . . . 15.375 50 0.996 0.976 D . . . . 0.719 0 5.41 0.917 1.045 0.999 1.000 19.255 Deleterious (FATHMM)
395 3 38551022 G A Pathogenic SCN5A . . . . . . . . . . 3 38551022 38551022 G A exonic SCN5A . stopgain SCN5A:NM_001099405:exon27:c.G5296T:p.E1766X,SCN5A:NM_001160161:exon27:c.G5188T:p.E1730X,SCN5A:NM_000335:exon28:c.G5347T:p.E1783X,SCN5A:NM_001099404:exon28:c.G5350T:p.E1784X,SCN5A:NM_001160160:exon28:c.G5251T:p.E1751X,SCN5A:NM_198056:exon28:c.G5350T:p.E1784X 3p22.2 . . . . . . . . 0.000 D 1 D . . . . . . . 14.560 46 0.997 0.981 D . . . . 0.638 0 4.82 0.871 0.852 0.993 0.974 18.087 Deleterious (FATHMM)
396 3 38551243 C T Pathogenic/Likely pathogenic, not provided SCN5A . . . . . . . . . . 3 38551243 38551243 C T exonic SCN5A . stopgain SCN5A:NM_001099405:exon27:c.C5075A:p.S1692X,SCN5A:NM_001160161:exon27:c.C4967A:p.S1656X,SCN5A:NM_000335:exon28:c.C5126A:p.S1709X,SCN5A:NM_001099404:exon28:c.C5129A:p.S1710X,SCN5A:NM_001160160:exon28:c.C5030A:p.S1677X,SCN5A:NM_198056:exon28:c.C5129A:p.S1710X 3p22.2 . . . . . . . . 0.000 D 1 D . . . . . . . 14.443 46 0.996 0.984 D . . . . 0.693 0 4.68 0.917 0.953 0.992 0.551 17.791 Deleterious (FATHMM)
397 3 38551441 G A Pathogenic SCN5A . . . . . . . . . . 3 38551441 38551441 G A exonic SCN5A . nonsynonymous SNV SCN5A:NM_001099405:exon27:c.G4877T:p.R1626L,SCN5A:NM_001160161:exon27:c.G4769T:p.R1590L,SCN5A:NM_000335:exon28:c.G4928T:p.R1643L,SCN5A:NM_001099404:exon28:c.G4931T:p.R1644L,SCN5A:NM_001160160:exon28:c.G4832T:p.R1611L,SCN5A:NM_198056:exon28:c.G4931T:p.R1644L 3p22.2 . rs28937316 0.0 D 1.0 D 0.997 D 0.000 D 1.000 D 4.445 H -5.18 D -6.18 D 0.955 7.155 34 0.998 0.979 D 1.005 D 0.984 D 0.706 0 4.54 0.871 0.852 0.995 0.999 17.490 Deleterious
398 3 38551505 C T Pathogenic SCN5A . . . . . . . . . . 3 38551505 38551505 C T exonic SCN5A . synonymous SNV SCN5A:NM_001099405:exon27:c.C4813A:p.R1605R,SCN5A:NM_001160161:exon27:c.C4705A:p.R1569R,SCN5A:NM_000335:exon28:c.C4864A:p.R1622R,SCN5A:NM_001099404:exon28:c.C4867A:p.R1623R,SCN5A:NM_001160160:exon28:c.C4768A:p.R1590R,SCN5A:NM_198056:exon28:c.C4867A:p.R1623R 3p22.2 7.7e-05 rs137854613 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
399 3 38579372 C T Pathogenic/Likely pathogenic SCN5A . . . . . . . . . . 3 38579372 38579372 C T exonic SCN5A . nonsynonymous SNV SCN5A:NM_000335:exon18:c.C3349A:p.Q1117K,SCN5A:NM_001099404:exon18:c.C3352A:p.Q1118K,SCN5A:NM_001099405:exon18:c.C3352A:p.Q1118K,SCN5A:NM_001160160:exon18:c.C3349A:p.Q1117K,SCN5A:NM_198056:exon18:c.C3352A:p.Q1118K 3p22.2 . . 0.622 T 0.019 B 0.025 B 0.593 N 1.000 N 1.185 L -1.65 D -0.02 N 0.595 -0.393 0.403 0.759 0.652 D -0.805 T 0.376 T 0.495 0 3.41 -0.293 0.077 0.118 0.338 10.034 Tolerated
400 3 38586038 C T Pathogenic/Likely pathogenic, not provided SCN5A . . . . . . . . . . 3 38586038 38586038 C T exonic SCN5A . synonymous SNV SCN5A:NM_000335:exon16:c.C2440A:p.R814R,SCN5A:NM_001099404:exon16:c.C2440A:p.R814R,SCN5A:NM_001099405:exon16:c.C2440A:p.R814R,SCN5A:NM_001160160:exon16:c.C2440A:p.R814R,SCN5A:NM_001160161:exon16:c.C2440A:p.R814R,SCN5A:NM_198056:exon16:c.C2440A:p.R814R 3p22.2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
401 3 38597737 G A Pathogenic/Likely pathogenic, not provided SCN5A . . . . . . . . . . 3 38597737 38597737 G A exonic SCN5A . stopgain SCN5A:NM_000335:exon14:c.G2254T:p.G752X,SCN5A:NM_001099404:exon14:c.G2254T:p.G752X,SCN5A:NM_001099405:exon14:c.G2254T:p.G752X,SCN5A:NM_001160160:exon14:c.G2254T:p.G752X,SCN5A:NM_001160161:exon14:c.G2254T:p.G752X,SCN5A:NM_198056:exon14:c.G2254T:p.G752X 3p22.2 . . . . . . . . 0.000 D 1 A . . . . . . . 14.536 46 0.994 0.990 D . . . . 0.706 0 4.68 0.871 0.892 0.999 1.000 17.753 Deleterious (FATHMM)
402 3 38605949 T A Pathogenic SCN5A . . . . . . . . . . 3 38605949 38605949 T A splicing SCN5A NM_001160161:exon10:c.1338+2A>T,NM_001160160:exon10:c.1338+2A>T,NM_001099405:exon10:c.1338+2A>T,NM_001099404:exon10:c.1338+2A>T,NM_198056:exon10:c.1338+2A>T,NM_000335:exon10:c.1338+2A>T . . 3p22.2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .
403 3 38606058 G A Pathogenic SCN5A . . . . . . . . . . 3 38606058 38606058 G A exonic SCN5A . nonsynonymous SNV SCN5A:NM_000335:exon10:c.G1231T:p.V411L,SCN5A:NM_001099404:exon10:c.G1231T:p.V411L,SCN5A:NM_001099405:exon10:c.G1231T:p.V411L,SCN5A:NM_001160160:exon10:c.G1231T:p.V411L,SCN5A:NM_001160161:exon10:c.G1231T:p.V411L,SCN5A:NM_198056:exon10:c.G1231T:p.V411L 3p22.2 . . 0.0 D 0.999 D 0.998 D 0.000 D 1.000 D 3.005 M -5.29 D -2.94 D 0.949 7.371 34 0.998 0.989 D 1.081 D 0.980 D 0.706 0 5.54 0.871 0.935 0.993 0.994 19.679 Deleterious
404 3 38613781 G A Pathogenic SCN5A . . . . . . . . . . 3 38613781 38613781 G A exonic SCN5A . nonsynonymous SNV SCN5A:NM_000335:exon6:c.G665T:p.R222L,SCN5A:NM_198056:exon6:c.G665T:p.R222L 3p22.2 . . 0.0 D 1.0 D 0.999 D 0.000 D 1 D 4.605 H -5.09 D -6.83 D 0.976 2.664 20.6 0.999 0.986 D 0.996 D 0.985 D 0.554 0 4.3 0.871 0.852 1.000 1.000 17.040 Deleterious
405 3 38630392 G A Pathogenic SCN5A . . . . . . . . . . 3 38630392 38630392 G A exonic SCN5A . nonsynonymous SNV SCN5A:NM_000335:exon3:c.G311T:p.R104L,SCN5A:NM_001099404:exon3:c.G311T:p.R104L,SCN5A:NM_001099405:exon3:c.G311T:p.R104L,SCN5A:NM_001160160:exon3:c.G311T:p.R104L,SCN5A:NM_001160161:exon3:c.G311T:p.R104L,SCN5A:NM_198056:exon3:c.G311T:p.R104L 3p22.2 . . 0.0 D 1.0 D 0.999 D 0.000 D 1.000 D 3.475 M -4.51 D -6.65 D 0.954 8.067 35 0.999 0.983 D 1.092 D 0.969 D 0.644 0 5.11 0.871 0.935 0.998 1.000 18.721 Deleterious
406 3 46859511 A G Pathogenic MYL3 . . . . . . . . . . 3 46859511 46859511 A G exonic MYL3 . nonsynonymous SNV MYL3:NM_000258:exon4:c.A445C:p.M149L 3p21.31 . . 0.042 D 0.043 B 0.033 B 0.000 D 1 D 0.93 L -1.26 T -2.72 D 0.825 2.680 20.7 0.975 0.931 D -0.681 T 0.275 T 0.743 0 4.26 0.991 0.964 0.998 0.996 11.65 Tolerated
407 3 46860702 G A Pathogenic/Likely pathogenic, not provided MYL3 . . . . . . . . . . 3 46860702 46860702 G A exonic MYL3 . nonsynonymous SNV MYL3:NM_000258:exon3:c.G281T:p.R94L 3p21.31 . . 0.03 D 0.055 B 0.044 B 0.006 N 0.939 D 1.375 L -1.27 T -4.16 D 0.425 5.557 26.4 0.997 0.920 D -0.483 T 0.302 T 0.526 0 4.36 0.871 0.935 0.992 0.993 8.377 Tolerated
408 3 46860813 C G Pathogenic MYL3 . . . . . . . . . . 3 46860813 46860813 C G exonic MYL3 . synonymous SNV MYL3:NM_000258:exon3:c.C170C:p.A57A 3p21.31 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
409 3 48565636 C T Pathogenic COL7A1 . . . . . . . . . . 3 48565636 48565636 C T exonic COL7A1 . synonymous SNV COL7A1:NM_000094:exon114:c.C8440A:p.R2814R 3p21.31 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
410 3 81648854 T C Pathogenic/Likely pathogenic GBE1 . . . . . . . . . . 3 81648854 81648854 T C splicing GBE1 NM_000158:exon5:c.691+2A>G . . 3p12.2 . . . . . . . . . . 1 D . . . . . . . 4.595 24.4 0.994 0.991 D . . . . 0.263 0 6.06 1.062 1.199 1.000 1.000 16.609 Deleterious (FATHMM)
411 3 100748182 C T Pathogenic TFG . . . . . . . . . . 3 100748182 100748182 C T exonic TFG . nonsynonymous SNV TFG:NM_001007565:exon8:c.C854T:p.P285L,TFG:NM_001195478:exon8:c.C854T:p.P285L,TFG:NM_001195479:exon8:c.C842T:p.P281L,TFG:NM_006070:exon8:c.C854T:p.P285L 3q12.2 . rs207482230 0.004 D 0.131 B 0.059 B 0.001 D 1.000 D 0 N 0.63 T -2.13 N 0.765 2.550 19.79 0.999 0.931 D -1.041 T 0.092 T 0.707 0 6.16 0.871 0.931 1.000 1.000 17.045 Tolerated
412 3 121781772 C T Pathogenic IQCB1 . . . . . . . . . . 3 121781772 121781772 C T exonic IQCB1 . synonymous SNV IQCB1:NM_001023571:exon10:c.C982A:p.R328R,IQCB1:NM_001023570:exon13:c.C1381A:p.R461R 3q13.33 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
413 3 123352464 C T Pathogenic ADCY5 . . . . . . . . . . 3 123352464 123352464 C T exonic ADCY5 . synonymous SNV ADCY5:NM_001199642:exon2:c.C202A:p.R68R,ADCY5:NM_183357:exon2:c.C1252A:p.R418R 3q21.1 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
414 3 136301087 C A Pathogenic PCCB . . . . . . . . . . 3 136301087 136301087 C A exonic PCCB . stopgain PCCB:NM_000532:exon9:c.C942A:p.Y314X,PCCB:NM_001178014:exon10:c.C1002A:p.Y334X 3q22.3 . rs572246667 . . . . . . 0.000 D 1 A . . . . . . . 11.688 38 0.997 0.805 D . . . . 0.732 0 0.728 -0.501 0.071 0.992 0.993 8.215 Deleterious (FATHMM)
415 3 150941647 C A Pathogenic/Likely pathogenic CLRN1 . . . . . . . . . . 3 150941647 150941647 C A exonic CLRN1 . nonsynonymous SNV CLRN1:NM_001195794:exon2:c.C368T:p.A123V,CLRN1:NM_052995:exon2:c.C140T:p.A47V,CLRN1:NM_174878:exon2:c.C368T:p.A123V 3q25.1 . . 0.631 T 1.0 D 0.997 D 0.000 D 1 D 1.67 L -1.76 D -2.08 N 0.847 6.586 31 0.998 0.982 D 0.152 D 0.656 D 0.487 0 5.1 0.917 0.953 1.000 1.000 18.873 Deleterious
416 3 181712840 C G Pathogenic SOX2|SOX2-OT . . . . . . . . . . 3 181712840 181712840 C G exonic SOX2 . stopgain SOX2:NM_003106:exon1:c.C480G:p.Y160X 3q26.33 . . . . . . . . 0.000 D 1 D . . . . . . . 11.705 38 0.996 0.872 D . . . . 0.598 0 4.39 0.871 0.887 1.000 1.000 9.551 Deleterious (FATHMM)
417 3 183041720 C T Pathogenic MCCC1 . . . . . . . . . . 3 183041720 183041720 C T exonic MCCC1 . nonsynonymous SNV MCCC1:NM_001293273:exon9:c.C763A:p.Q255K,MCCC1:NM_020166:exon11:c.C1114A:p.Q372K 3q27.1 . . 0.022 D 0.967 D 0.782 P 0.000 D 1 D 3.31 M -4.44 D -3.96 D 0.802 6.005 27.9 0.996 0.997 D 1.092 D 0.951 D 0.732 0 5.45 0.917 1.048 1.000 1.000 19.270 Deleterious
418 3 183045522 T G Pathogenic/Likely pathogenic MCCC1 . . . . . . . . . . 3 183045522 183045522 T G exonic MCCC1 . nonsynonymous SNV MCCC1:NM_001293273:exon8:c.T623C:p.M208T,MCCC1:NM_020166:exon10:c.T974C:p.M325T 3q27.1 . . 0.006 D 1.0 D 0.999 D 0.000 D 1 D 3.26 M -4.2 D -5.01 D 0.935 5.833 27.2 0.992 0.970 D 1.097 D 0.949 D 0.757 0 5.63 1.062 1.199 1.000 1.000 15.851 Deleterious
419 3 183057343 C T Pathogenic MCCC1 . . . . . . . . . . 3 183057343 183057343 C T exonic MCCC1 . synonymous SNV MCCC1:NM_001293273:exon6:c.C490A:p.R164R,MCCC1:NM_020166:exon8:c.C841A:p.R281R 3q27.1 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
420 3 183092545 G A Pathogenic MCCC1 . . . . . . . . . . 3 183092545 183092545 G A exonic MCCC1 . nonsynonymous SNV MCCC1:NM_020166:exon3:c.G137T:p.G46V 3q27.1 . . 0.148 T 0.017 B 0.004 B 0.127 N 1 D 0 N -2.84 D -0.3 N 0.727 3.049 22.4 0.984 0.974 D -0.918 T 0.576 D 0.707 0 5.85 0.871 0.046 0.994 0.908 18.929 Deleterious
421 3 184136687 A G Pathogenic EIF2B5 . . . . . . . . . . 3 184136687 184136687 A G exonic EIF2B5 . nonsynonymous SNV EIF2B5:NM_003907:exon2:c.A271G:p.T91A 3q27.1 . rs28939717 0.249 T 0.997 D 0.985 D 0.000 D 1 A 0.86 L -3.29 D -1.05 N 0.901 2.434 19.04 0.995 0.991 D 0.957 D 0.866 D 0.660 0 5.7 1.062 1.140 1.000 1.000 15.961 Deleterious
422 3 184137637 G A Pathogenic EIF2B5 . . . . . . . . . . 3 184137637 184137637 G A exonic EIF2B5 . nonsynonymous SNV EIF2B5:NM_003907:exon3:c.G338A:p.R113H 3q27.1 0.0005 rs113994049 0.166 T 0.002 B 0.003 B 0.000 N 0.992 A 1.52 L -4.65 D -1.8 N 0.667 3.278 22.8 0.989 0.850 D 0.441 D 0.815 D 0.722 0 1.51 -0.540 0.154 0.984 0.992 8.328 Deleterious
423 3 189864392 A G Pathogenic TP63 . . . . . . . . . . 3 189864392 189864392 A G exonic TP63 . nonsynonymous SNV TP63:NM_001114980:exon3:c.A458G:p.H153R,TP63:NM_001114981:exon3:c.A458G:p.H153R,TP63:NM_001114982:exon3:c.A458G:p.H153R,TP63:NM_001114978:exon5:c.A740G:p.H247R,TP63:NM_001114979:exon5:c.A740G:p.H247R,TP63:NM_003722:exon5:c.A740G:p.H247R 3q28 . rs864621968 0.001 D 0.999 D 0.977 D 0.000 D 1 D 3.165 M -7.16 D -7.84 D 0.986 5.562 26.4 0.998 0.989 D 0.894 D 0.996 D 0.693 0 5.85 1.062 1.199 0.999 0.998 15.423 Deleterious
424 3 193638064 A G Pathogenic OPA1 . . . . . . . . . . 3 193638064 193638064 A G exonic OPA1 . nonsynonymous SNV OPA1:NM_130831:exon8:c.A875G:p.K292R,OPA1:NM_015560:exon9:c.A983G:p.K328R,OPA1:NM_130832:exon9:c.A929G:p.K310R,OPA1:NM_130833:exon9:c.A986G:p.K329R,OPA1:NM_130834:exon10:c.A1037G:p.K346R,OPA1:NM_130835:exon10:c.A1040G:p.K347R,OPA1:NM_130836:exon10:c.A1094G:p.K365R,OPA1:NM_130837:exon11:c.A1148G:p.K383R 3q29 . rs398124303 0.023 D 0.999 D 0.996 D 0.000 D 1 D 1.875 L -4.19 D -2.53 D 0.783 6.265 29.0 0.999 0.991 D 0.997 D 0.913 D 0.707 0 5.5 1.062 1.028 0.896 0.745 14.783 Deleterious
425 3 193642763 A G Pathogenic OPA1 . . . . . . . . . . 3 193642763 193642763 A G splicing OPA1 NM_015560:exon10:c.985-2A>G,NM_130837:exon12:c.1150-2A>G,NM_130836:exon11:c.1096-2A>G,NM_130835:exon11:c.1042-2A>G,NM_130834:exon11:c.1039-2A>G,NM_130833:exon10:c.988-2A>G,NM_130832:exon10:c.931-2A>G,NM_130831:exon9:c.877-2A>G . . 3q29 . . . . . . . . . . 1 D . . . . . . . 5.174 25.5 0.995 0.995 D . . . . 0.295 0 5.59 1.062 1.199 0.930 0.922 14.942 Deleterious (FATHMM)
426 3 193643996 G A Pathogenic OPA1 . . . . . . . . . . 3 193643996 193643996 G A exonic OPA1 . nonsynonymous SNV OPA1:NM_130831:exon13:c.G1226A:p.R409H,OPA1:NM_015560:exon14:c.G1334A:p.R445H,OPA1:NM_130832:exon14:c.G1280A:p.R427H,OPA1:NM_130833:exon14:c.G1337A:p.R446H,OPA1:NM_130834:exon15:c.G1388A:p.R463H,OPA1:NM_130835:exon15:c.G1391A:p.R464H,OPA1:NM_130836:exon15:c.G1445A:p.R482H,OPA1:NM_130837:exon16:c.G1499A:p.R500H 3q29 . rs80356529 0.001 D 1.0 D 0.994 D 0.000 D 1 A 2.84 M -4.21 D -4.7 D 0.953 7.484 34 0.999 0.993 D 1.083 D 0.946 D 0.707 0 5.8 0.917 1.048 0.998 0.992 19.051 Deleterious
427 3 193647144 C T Pathogenic OPA1 . . . . . . . . . . 3 193647144 193647144 C T exonic OPA1 . stopgain OPA1:NM_130831:exon16:c.C1561T:p.R521X,OPA1:NM_015560:exon17:c.C1669T:p.R557X,OPA1:NM_130832:exon17:c.C1615T:p.R539X,OPA1:NM_130833:exon17:c.C1672T:p.R558X,OPA1:NM_130834:exon18:c.C1723T:p.R575X,OPA1:NM_130835:exon18:c.C1726T:p.R576X,OPA1:NM_130836:exon18:c.C1780T:p.R594X,OPA1:NM_130837:exon19:c.C1834T:p.R612X 3q29 . rs398124299 . . . . . . 0.000 D 1 A . . . . . . . 13.393 42 0.998 0.930 D . . . . 0.707 0 5.64 0.871 0.935 0.997 0.979 14.218 Deleterious (FATHMM)
428 3 193664952 C T Pathogenic OPA1 . . . . . . . . . . 3 193664952 193664952 C T exonic OPA1 . stopgain OPA1:NM_130831:exon24:c.C2461T:p.R821X,OPA1:NM_015560:exon25:c.C2569T:p.R857X,OPA1:NM_130832:exon25:c.C2515T:p.R839X,OPA1:NM_130833:exon25:c.C2572T:p.R858X,OPA1:NM_130834:exon26:c.C2623T:p.R875X,OPA1:NM_130835:exon26:c.C2626T:p.R876X,OPA1:NM_130836:exon26:c.C2680T:p.R894X,OPA1:NM_130837:exon27:c.C2734T:p.R912X 3q29 . rs794727405 . . . . . . 0.000 D 1 A . . . . . . . 14.510 46 0.997 0.950 D . . . . 0.706 0 5.88 0.871 0.892 0.989 1.000 14.102 Deleterious (FATHMM)
429 4 664945 G A Pathogenic PDE6B . . . . . . . . . . 4 664945 664945 G A splicing PDE6B NM_000283:exon18:c.2193+1G>A,NM_001145291:exon18:c.2193+1G>A,NM_001145292:exon16:c.1356+1G>A . . 4p16.3 . rs727504075 . . . . . . . . 1 D . . . . . . . 4.609 24.4 0.995 0.995 D . . . . 0.256 0 4.27 0.917 0.902 0.971 0.861 14.555 Deleterious (FATHMM)
430 4 987858 C T Pathogenic IDUA|SLC26A1 . . . . . . . . . . 4 987858 987858 C T exonic IDUA . stopgain IDUA:NM_000203:exon2:c.C208T:p.Q70X 4p16.3 0.0008 rs121965020 . . . . . . 0.000 D 1 A . . . . . . . 9.383 35 0.998 0.706 D . . . . 0.609 0 3.51 0.871 0.852 0.998 0.999 12.533 Deleterious (FATHMM)
431 4 1002747 G A Pathogenic IDUA . . . . . . . . . . 4 1002747 1002747 G A exonic IDUA . stopgain IDUA:NM_000203:exon9:c.G1205A:p.W402X 4p16.3 0.0004 rs121965019 . . . . . . 0.100 N 1 A . . . . . . . 11.886 38 0.992 0.705 D . . . . 0.677 0 4.86 0.897 0.986 0.554 0.725 15.450 Deleterious (FATHMM)
432 4 1801837 C T Pathogenic FGFR3 . . . . . . . . . . 4 1801837 1801837 C T exonic FGFR3 . nonsynonymous SNV FGFR3:NM_000142:exon7:c.C742T:p.R248C,FGFR3:NM_001163213:exon7:c.C742T:p.R248C,FGFR3:NM_022965:exon7:c.C742T:p.R248C 4p16.3 . rs121913482 0.05 D 1.0 D 0.999 D 0.000 N 1 A 4.01 H -1.37 T -6.69 D 0.872 6.430 29.7 0.999 0.847 D 0.938 D 0.799 D 0.696 0 3.0 -0.058 0.721 0.938 0.935 13.581 Deleterious
433 4 1804392 G A Pathogenic FGFR3 . . . . . . . . . . 4 1804392 1804392 G A exonic FGFR3 . nonsynonymous SNV FGFR3:NM_000142:exon9:c.G1138A:p.G380R,FGFR3:NM_001163213:exon9:c.G1144A:p.G382R 4p16.3 . rs28931614 0.085 T 0.996 D 0.819 P 0.000 D 1 D 1.7 L -1.98 D -1.15 N 0.851 5.222 25.6 0.997 0.972 D 0.337 D 0.638 D 0.696 0 3.82 0.917 1.045 1.000 0.995 14.958 Deleterious
434 4 1805644 C G Pathogenic FGFR3 . . . . . . . . . . 4 1805644 1805644 C G exonic FGFR3 . nonsynonymous SNV FGFR3:NM_022965:exon10:c.C1284G:p.N428K,FGFR3:NM_000142:exon12:c.C1620G:p.N540K,FGFR3:NM_001163213:exon12:c.C1626G:p.N542K 4p16.3 . rs28933068 0.001 D 1.0 D 1.0 D 0.000 D 1 D -0.365 N -2.7 D -4.84 D 0.484 5.506 26.3 0.993 0.969 D 0.176 D 0.603 D 0.696 0 3.15 -0.032 0.050 0.983 0.999 8.170 Deleterious
435 4 1805644 C A Pathogenic FGFR3 . . . . . . . . . . 4 1805644 1805644 C A exonic FGFR3 . nonsynonymous SNV FGFR3:NM_022965:exon10:c.C1284A:p.N428K,FGFR3:NM_000142:exon12:c.C1620A:p.N540K,FGFR3:NM_001163213:exon12:c.C1626A:p.N542K 4p16.3 . rs28933068 0.001 D 1.0 D 1.0 D 0.000 D 1 D -0.365 N -2.7 D -4.84 D 0.484 5.982 27.8 0.993 0.968 D 0.176 D 0.603 D 0.696 0 3.15 -0.032 0.050 0.983 0.999 8.170 Deleterious
436 4 6301846 C T Pathogenic WFS1 . . . . . . . . . . 4 6301846 6301846 C T exonic WFS1 . nonsynonymous SNV WFS1:NM_001145853:exon8:c.C2051T:p.A684V,WFS1:NM_006005:exon8:c.C2051T:p.A684V 4p16.1 . rs387906930 0.0 D 1.0 D 0.958 D 0.000 D 1 D 2.71 M -4.16 D -2.2 N 0.894 6.780 32 0.999 0.983 D 1.083 D 0.940 D 0.707 0 5.49 0.871 0.870 0.990 0.913 18.357 Deleterious
437 4 15516005 G A Pathogenic CC2D2A . . . . . . . . . . 4 15516005 15516005 G A splicing CC2D2A NM_001080522:exon11:c.1017+1G>A . . 4p15.32 8.2e-05 rs200407856 . . . . . . . . 1 D . . . . . . . 3.778 23.4 0.965 0.977 D . . . . 0.099 0 6.17 0.917 1.048 0.210 0.007 17.796 Deleterious (FATHMM)
438 4 52028899 C G Pathogenic SGCB . . . . . . . . . . 4 52028899 52028899 C G exonic SGCB . synonymous SNV SGCB:NM_000232:exon4:c.C452C:p.T151T 4q12 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
439 4 52029766 C T Pathogenic SGCB . . . . . . . . . . 4 52029766 52029766 C T exonic SGCB . nonsynonymous SNV SGCB:NM_000232:exon3:c.C341A:p.S114Y 4q12 . . 0.002 D 0.986 D 0.876 P 0.000 D 1 D 1.245 L -3.77 D -2.8 D 0.75 6.295 29.1 0.995 0.991 D 0.901 D 0.868 D 0.707 0 5.25 0.917 0.998 1.000 0.988 17.822 Deleterious
440 4 52038229 C T Pathogenic/Likely pathogenic SGCB . . . . . . . . . . 4 52038229 52038229 C T exonic SGCB . nonsynonymous SNV SGCB:NM_000232:exon1:c.C31A:p.Q11K 4q12 . . 0.091 T 0.003 B 0.004 B 0.030 U 1.000 N 0.55 N -2.28 D -0.66 N 0.31 1.381 12.69 0.866 0.257 N -0.008 T 0.676 D 0.733 0 3.0 0.897 0.700 0.667 0.370 10.180 Deleterious
441 4 55346393 G A Pathogenic SRD5A3 . . . . . . . . . . 4 55346393 55346393 G A exonic SRD5A3 . stopgain SRD5A3:NM_024592:exon1:c.G57A:p.W19X 4q12 . rs398124401 . . . . . . 0.000 D 1 A . . . . . . . 9.125 35 0.990 0.199 N . . . . 0.442 0 3.95 0.897 0.917 0.578 0.809 13.030 Deleterious (DANN)
442 4 67754019 A G Pathogenic GNRHR . . . . . . . . . . 4 67754019 67754019 A G exonic GNRHR . nonsynonymous SNV GNRHR:NM_000406:exon1:c.A317C:p.Q106P,GNRHR:NM_001012763:exon1:c.A317C:p.Q106P 4q13.2 . . 0.002 D 0.999 D 0.996 D 0.000 D 1.000 D 2.515 M -0.64 T -5.49 D 0.969 3.859 23.5 0.995 0.982 D 0.183 D 0.552 D 0.554 0 6.17 0.991 1.061 0.981 0.877 14.774 Deleterious
443 4 78364055 G A Pathogenic FRAS1 . . . . . . . . . . 4 78364055 78364055 G A splicing FRAS1 NM_001166133:exon22:c.2722+1G>A,NM_025074:exon22:c.2722+1G>A . . 4q21.21 . rs794727365 . . . . . . . . 1 D . . . . . . . 5.455 26.1 0.995 0.966 D . . . . 0.099 0 5.6 0.917 0.953 0.973 0.968 19.619 Deleterious (FATHMM)
444 4 78473466 T A Pathogenic FRAS1 . . . . . . . . . . 4 78473466 78473466 T A exonic FRAS1 . stopgain FRAS1:NM_025074:exon53:c.T7551A:p.Y2517X 4q21.21 . rs745597204 . . . . . . 0.000 D 1 A . . . . . . . 5.639 26.6 0.941 0.288 N . . . . 0.707 0 -6.52 0.073 -0.270 0.992 0.648 17.653
445 4 127938781 T A Pathogenic MFSD8 . . . . . . . . . . 4 127938781 127938781 T A splicing MFSD8 NM_152778:exon8:c.754+2A>T . . 4q28.2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .
446 4 158706270 C T Pathogenic ETFDH . . . . . . . . . . 4 158706270 158706270 C T exonic ETFDH . nonsynonymous SNV ETFDH:NM_001281738:exon9:c.C1184T:p.P395L,ETFDH:NM_001281737:exon10:c.C1226T:p.P409L,ETFDH:NM_004453:exon11:c.C1367T:p.P456L 4q32.1 . rs398124152 0.015 D 0.999 D 0.929 D 0.000 D 1 D 2.955 M -3.54 D -9.08 D 0.975 6.875 33 0.999 0.986 D 1.004 D 0.922 D 0.732 0 5.89 0.871 0.892 0.713 0.244 20.236 Deleterious
447 4 169424668 C G Pathogenic/Likely pathogenic NEK1 . . . . . . . . . . 4 169424668 169424668 C G exonic NEK1 . synonymous SNV NEK1:NM_001199399:exon28:c.C2816C:p.S939S,NEK1:NM_001199400:exon28:c.C2891C:p.S964S,NEK1:NM_012224:exon29:c.C3023C:p.S1008S,NEK1:NM_001199398:exon30:c.C2975C:p.S992S,NEK1:NM_001199397:exon31:c.C3107C:p.S1036S 4q33 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
448 4 186274190 C T Pathogenic/Likely pathogenic F11 . . . . . . . . . . 4 186274190 186274190 C T exonic F11 . stopgain F11:NM_000128:exon5:c.C400T:p.Q134X 4q35.2 . rs756908183 . . . . . . 0.061 N 1 A . . . . . . . 8.143 35 0.990 0.301 N . . . . 0.487 0 3.91 0.871 0.935 0.839 0.158 11.418 Deleterious (DANN)
449 4 186274193 G T Pathogenic F11 . . . . . . . . . . 4 186274193 186274193 G T exonic F11 . stopgain F11:NM_000128:exon5:c.G403T:p.E135X 4q35.2 0.0008 rs121965063 . . . . . . 0.000 D 1 A . . . . . . . 10.803 36 0.997 0.867 D . . . . 0.487 0 4.92 0.917 1.048 0.932 0.676 9.282 Deleterious (FATHMM)
450 5 223509 C T Pathogenic/Likely pathogenic SDHA . . . . . . . . . . 5 223509 223509 C T exonic SDHA . stopgain SDHA:NM_001294332:exon2:c.C91T:p.R31X,SDHA:NM_004168:exon2:c.C91T:p.R31X 5p15.33 0.0002 rs142441643 . . . . . . 0.000 U 1 A . . . . . . . 10.183 36 0.998 0.307 N . . . . 0.732 0 4.94 -0.066 -0.349 0.008 0.068 13.131 Deleterious (DANN)
451 5 1212338 G A Pathogenic SLC6A19 . . . . . . . . . . 5 1212338 1212338 G A exonic SLC6A19 . nonsynonymous SNV SLC6A19:NM_001003841:exon4:c.G517A:p.D173N 5p15.33 0.0024 rs121434346 0.451 T 0.016 B 0.05 B 0.000 D 1.000 A 0.99 L -0.8 T 0.02 N 0.184 4.006 23.6 0.980 0.919 D -0.684 T 0.277 T 0.403 0 5.09 0.917 0.998 0.995 0.999 18.836 Tolerated
452 5 13830026 G A Pathogenic/Likely pathogenic DNAH5 . . . . . . . . . . 5 13830026 13830026 G A exonic DNAH5 . nonsynonymous SNV DNAH5:NM_001369:exon37:c.G6249T:p.M2083I 5p15.2 . . 0.001 D 1.0 D 0.998 D 0.000 D 1 D 3.14 M 0.98 T -3.83 D 0.963 4.480 24.2 0.998 0.992 D -0.269 T 0.354 T 0.500 0 5.76 0.871 0.935 0.995 0.997 19.976 Tolerated
453 5 36955540 C T Pathogenic NIPBL . . . . . . . . . . 5 36955540 36955540 C T exonic NIPBL . stopgain NIPBL:NM_015384:exon3:c.C133T:p.R45X,NIPBL:NM_133433:exon3:c.C133T:p.R45X 5p13.2 . rs80358367 . . . . . . 0.000 D 1 A . . . . . . . 10.452 36 0.996 0.870 D . . . . 0.732 0 3.63 0.871 0.892 0.995 1.000 14.443 Deleterious (FATHMM)
454 5 36971037 G A Pathogenic NIPBL . . . . . . . . . . 5 36971037 36971037 G A splicing NIPBL NM_133433:exon7:c.771+1G>A,NM_015384:exon7:c.771+1G>A . . 5p13.2 . rs587784048 . . . . . . . . 1 D . . . . . . . 5.991 27.8 0.994 0.993 D . . . . 0.295 0 5.58 0.917 1.048 0.997 1.000 19.517 Deleterious (FATHMM)
455 5 36985065 C T Pathogenic NIPBL . . . . . . . . . . 5 36985065 36985065 C T exonic NIPBL . stopgain NIPBL:NM_015384:exon10:c.C1885T:p.R629X,NIPBL:NM_133433:exon10:c.C1885T:p.R629X 5p13.2 . rs587783892 . . . . . . 0.000 D 1 A . . . . . . . 9.259 35 0.997 0.209 N . . . . 0.706 0 3.8 -0.444 -0.021 0.973 0.506 7.904 Deleterious (DANN)
456 5 36985782 C T Pathogenic NIPBL . . . . . . . . . . 5 36985782 36985782 C T exonic NIPBL . stopgain NIPBL:NM_015384:exon10:c.C2602T:p.R868X,NIPBL:NM_133433:exon10:c.C2602T:p.R868X 5p13.2 . rs398124466 . . . . . . 0.000 D 1 A . . . . . . . 10.095 36 0.996 0.875 D . . . . 0.706 0 3.6 0.067 0.031 1.000 1.000 13.180 Deleterious (FATHMM)
457 5 37051836 G C Pathogenic/Likely pathogenic NIPBL . . . . . . . . . . 5 37051836 37051836 G C exonic NIPBL . nonsynonymous SNV NIPBL:NM_015384:exon41:c.G7012C:p.A2338P,NIPBL:NM_133433:exon41:c.G7012C:p.A2338P 5p13.2 . rs587784030 0.002 D 0.98 D 0.949 D 0.000 D 1.000 D 2.92 M -4.72 D -4.42 D 0.933 6.231 28.8 0.998 0.969 D 1.090 D 0.956 D 0.732 0 5.69 0.917 1.048 0.999 1.000 14.635 Deleterious
458 5 37052522 C T Pathogenic NIPBL . . . . . . . . . . 5 37052522 37052522 C T exonic NIPBL . stopgain NIPBL:NM_015384:exon42:c.C7219T:p.R2407X,NIPBL:NM_133433:exon42:c.C7219T:p.R2407X 5p13.2 . rs398124471 . . . . . . 0.000 D 1 A . . . . . . . 15.641 52 0.998 0.947 D . . . . 0.732 0 6.02 0.871 0.935 0.999 1.000 20.537 Deleterious (FATHMM)
459 5 37064854 C T Pathogenic NIPBL|C5orf42 . . . . . . . . . . 5 37064854 37064854 C T exonic NIPBL . stopgain NIPBL:NM_133433:exon47:c.C8377T:p.R2793X 5p13.2 . rs398124474 . . . . . . 0.000 D 1 D . . . . . . . 13.699 43 0.995 0.973 D . . . . 0.719 0 4.96 0.871 0.003 1.000 1.000 16.032 Deleterious (FATHMM)
460 5 37120306 C T Pathogenic C5orf42 . . . . . . . . . . 5 37120306 37120306 C T exonic C5orf42 . synonymous SNV C5orf42:NM_023073:exon49:c.C9058A:p.R3020R 5p13.2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
461 5 37157810 T A Pathogenic C5orf42 . . . . . . . . . . 5 37157810 37157810 T A exonic C5orf42 . synonymous SNV C5orf42:NM_023073:exon40:c.T7817T:p.L2606L 5p13.2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
462 5 37198775 C T Pathogenic C5orf42 . . . . . . . . . . 5 37198775 37198775 C T exonic C5orf42 . nonsynonymous SNV C5orf42:NM_023073:exon20:c.C3599A:p.A1200E 5p13.2 7.7e-05 rs141153181 0.001 D 1.0 D 0.999 D 0.000 D 1.000 D 0.895 L 1.05 T -2.94 D 0.923 6.250 28.9 0.995 0.990 D -0.747 T 0.194 T 0.660 0 5.28 0.917 0.953 0.976 0.618 19.272 Tolerated
463 5 37224679 C T Pathogenic C5orf42 . . . . . . . . . . 5 37224679 37224679 C T exonic C5orf42 . synonymous SNV C5orf42:NM_023073:exon13:c.C2353A:p.R785R 5p13.2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
464 5 68296301 C T Pathogenic PIK3R1 . . . . . . . . . . 5 68296301 68296301 C T exonic PIK3R1 . nonsynonymous SNV PIK3R1:NM_001242466:exon8:c.C856T:p.R286W,PIK3R1:NM_181504:exon9:c.C1135T:p.R379W,PIK3R1:NM_181524:exon9:c.C1045T:p.R349W,PIK3R1:NM_181523:exon15:c.C1945T:p.R649W 5q13.1 . rs397515453 0.0 D 1.0 D 1.0 D 0.000 D 1 D 4.28 H -5.7 D -7.05 D 0.985 8.420 35 0.999 0.978 D 0.988 D 0.989 D 0.707 0 5.15 0.871 0.935 0.998 0.999 18.808 Deleterious
465 5 69433088 C T Pathogenic MARVELD2 . . . . . . . . . . 5 69433088 69433088 C T exonic MARVELD2 . stopgain MARVELD2:NM_001244734:exon4:c.C1462T:p.R488X,MARVELD2:NM_001038603:exon5:c.C1498T:p.R500X 5q13.2 . rs118203957 . . . . . . 0.026 N 1 A . . . . . . . 14.584 46 0.997 0.906 D . . . . 0.707 0 4.8 -0.058 0.935 0.679 0.534 15.332 Deleterious (FATHMM)
466 5 71599672 G C Pathogenic MCCC2 . . . . . . . . . . 5 71599672 71599672 G C exonic MCCC2 . nonsynonymous SNV MCCC2:NM_022132:exon4:c.G295C:p.E99Q 5q13.2 0.0002 rs119103219 0.0 D 0.959 D 0.618 P 0.000 D 1 A 3.87 H -5.72 D -2.82 D 0.928 6.217 28.7 0.998 0.989 D 1.083 D 0.981 D 0.722 0 6.02 0.917 1.022 1.000 0.998 19.306 Deleterious
467 5 71604412 C T Pathogenic MCCC2 . . . . . . . . . . 5 71604412 71604412 C T exonic MCCC2 . nonsynonymous SNV MCCC2:NM_022132:exon6:c.C568T:p.H190Y 5q13.2 . rs773774134 0.0 D 1.0 D 0.997 D 0.000 D 1 D 3.825 H -4.61 D -5.73 D 0.95 6.471 29.9 0.998 0.987 D 1.083 D 0.973 D 0.706 0 5.57 0.871 0.935 0.998 0.996 18.736 Deleterious
468 5 74718804 C T Pathogenic HEXB . . . . . . . . . . 5 74718804 74718804 C T exonic HEXB . nonsynonymous SNV HEXB:NM_000521:exon11:c.C1250T:p.P417L,HEXB:NM_001292004:exon11:c.C575T:p.P192L 5q13.3 0.0005 rs28942073 0.018 D 0.893 P 0.633 P 0.001 D 0.998 A 3.185 M -2.68 D -6.36 D 0.773 3.325 22.9 0.992 0.833 D 0.922 D 0.816 D 0.706 0 3.21 0.871 0.044 0.467 0.364 15.594 Deleterious
469 5 88751881 C T Pathogenic MEF2C . . . . . . . . . . 5 88751881 88751881 C T exonic MEF2C . synonymous SNV MEF2C:NM_001193348:exon3:c.C421A:p.R141R,MEF2C:NM_001193349:exon3:c.C421A:p.R141R,MEF2C:NM_001308002:exon4:c.C565A:p.R189R,MEF2C:NM_001193350:exon5:c.C565A:p.R189R,MEF2C:NM_002397:exon5:c.C565A:p.R189R,MEF2C:NM_001131005:exon6:c.C559A:p.R187R,MEF2C:NM_001193347:exon7:c.C619A:p.R207R 5q14.3 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
470 5 88823787 T C Pathogenic MEF2C . . . . . . . . . . 5 88823787 88823787 T C exonic MEF2C . nonsynonymous SNV MEF2C:NM_001193348:exon1:c.T2G:p.M1R,MEF2C:NM_001193349:exon1:c.T2G:p.M1R,MEF2C:NM_001308002:exon1:c.T2G:p.M1R,MEF2C:NM_001193350:exon2:c.T2G:p.M1R,MEF2C:NM_002397:exon2:c.T2G:p.M1R,MEF2C:NM_001131005:exon3:c.T2G:p.M1R,MEF2C:NM_001193347:exon3:c.T2G:p.M1R 5q14.3 . . 0.0 D 1.0 D 1.0 D 0.000 D 0.992 D . . -1.33 T -5.12 D 0.886 4.863 24.9 0.987 0.985 D 1.048 D 0.909 D 0.507 0 5.12 1.062 1.140 1.000 1.000 15.214 Deleterious
471 5 112754960 C T Pathogenic APC . . . . . . . . . . 5 112754960 112754960 C T exonic APC . stopgain APC:NM_000038:exon2:c.C70T:p.R24X,APC:NM_001127510:exon3:c.C70T:p.R24X 5q22.2 7.7e-05 rs145945630 . . . . . . 0.000 D 1 A . . . . . . . 11.655 37 0.997 0.911 D . . . . 0.706 0 5.67 0.871 0.892 1.000 1.000 19.753 Deleterious (FATHMM)
472 5 112766410 G T Pathogenic/Likely pathogenic APC . . . . . . . . . . 5 112766410 112766410 G T exonic APC . stopgain APC:NM_001127511:exon2:c.G250T:p.E84X,APC:NM_000038:exon3:c.G220T:p.E74X,APC:NM_001127510:exon4:c.G220T:p.E74X 5q22.2 . . . . . . . . 0.000 D 1 A . . . . . . . 11.111 37 0.997 0.998 D . . . . 0.651 0 5.65 0.917 0.902 0.992 0.997 19.716 Deleterious (FATHMM)
473 5 112780895 C T Pathogenic APC . . . . . . . . . . 5 112780895 112780895 C T exonic APC . stopgain APC:NM_001127511:exon5:c.C667T:p.R223X,APC:NM_000038:exon6:c.C637T:p.R213X,APC:NM_001127510:exon7:c.C637T:p.R213X 5q22.2 . rs587781392 . . . . . . 0.000 D 1 A . . . . . . . 11.992 38 0.998 0.979 D . . . . 0.732 0 3.74 -0.048 0.036 0.989 0.978 14.256 Deleterious (FATHMM)
474 5 112780904 G A Pathogenic/Likely pathogenic APC . . . . . . . . . . 5 112780904 112780904 G A splicing APC NM_001127511:exon5:c.675+1G>A,NM_000038:exon6:c.645+1G>A,NM_001127510:exon7:c.645+1G>A . . 5q22.2 . rs863225370 . . . . . . . . 1 D . . . . . . . 5.725 26.9 0.996 0.998 D . . . . 0.164 0 5.56 0.917 1.048 0.975 0.898 19.535 Deleterious (FATHMM)
475 5 112792446 C T Pathogenic APC . . . . . . . . . . 5 112792446 112792446 C T exonic APC . stopgain APC:NM_000038:exon7:c.C646T:p.R216X,APC:NM_001127510:exon8:c.C646T:p.R216X 5q22.2 . rs62619935 . . . . . . 0.232 N 1 A . . . . . . . 10.578 36 0.997 0.672 D . . . . 0.732 0 2.99 0.033 0.059 0.984 0.991 1.709 Deleterious (FATHMM)
476 5 112815507 C T Pathogenic APC . . . . . . . . . . 5 112815507 112815507 C T exonic APC . stopgain APC:NM_001127511:exon7:c.C793T:p.R265X,APC:NM_000038:exon9:c.C847T:p.R283X,APC:NM_001127510:exon10:c.C847T:p.R283X 5q22.2 . rs786201856 . . . . . . 0.000 D 1 A . . . . . . . 12.711 40 0.998 0.984 D . . . . 0.722 0 4.22 0.871 0.852 0.352 0.969 12.977 Deleterious (FATHMM)
477 5 112815564 C T Pathogenic, other APC . . . . . . . . . . 5 112815564 112815564 C T exonic APC . stopgain APC:NM_001127511:exon7:c.C850T:p.R284X,APC:NM_000038:exon9:c.C904T:p.R302X,APC:NM_001127510:exon10:c.C904T:p.R302X 5q22.2 . rs137854568 . . . . . . 0.000 D 1 A . . . . . . . 12.589 39 0.998 0.968 D . . . . 0.722 0 5.11 0.871 0.852 1.000 1.000 18.903 Deleterious (FATHMM)
478 5 112819026 C T Pathogenic APC . . . . . . . . . . 5 112819026 112819026 C T exonic APC . stopgain APC:NM_001127511:exon8:c.C940T:p.R314X,APC:NM_000038:exon10:c.C994T:p.R332X,APC:NM_001127510:exon11:c.C994T:p.R332X 5q22.2 . rs775126020 . . . . . . 0.000 D 1 A . . . . . . . 10.920 37 0.997 0.957 D . . . . 0.719 0 4.84 0.871 0.935 0.999 0.998 13.996 Deleterious (FATHMM)
479 5 112819245 C T Pathogenic APC . . . . . . . . . . 5 112819245 112819245 C T exonic APC . stopgain APC:NM_001127511:exon8:c.C1159T:p.R387X,APC:NM_000038:exon10:c.C1213T:p.R405X,APC:NM_001127510:exon11:c.C1213T:p.R405X 5q22.2 . rs587779780 . . . . . . 0.000 D 1 A . . . . . . . 11.773 38 0.997 0.960 D . . . . 0.563 0 5.94 0.871 0.935 0.999 1.000 20.419 Deleterious (FATHMM)
480 5 112819347 A G Pathogenic/Likely pathogenic APC . . . . . . . . . . 5 112819347 112819347 A G intronic APC . . . 5q22.2 . rs863225311 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . probably Tolerated (Intron)
481 5 112828889 C T Pathogenic APC . . . . . . . . . . 5 112828889 112828889 C T exonic APC . stopgain APC:NM_001127511:exon12:c.C1606T:p.R536X,APC:NM_000038:exon14:c.C1660T:p.R554X,APC:NM_001127510:exon15:c.C1660T:p.R554X 5q22.2 . rs137854573 . . . . . . 0.000 D 1 A . . . . . . . 10.660 36 0.997 0.897 D . . . . 0.732 0 1.6 0.871 0.852 1.000 1.000 16.691 Deleterious (FATHMM)
482 5 112838007 C T Pathogenic APC . . . . . . . . . . 5 112838007 112838007 C T exonic APC . stopgain APC:NM_001127511:exon14:c.C2359T:p.R787X,APC:NM_000038:exon16:c.C2413T:p.R805X,APC:NM_001127510:exon17:c.C2413T:p.R805X 5q22.2 . rs587779783 . . . . . . 0.000 D 1 D . . . . . . . 9.717 36 0.997 0.826 D . . . . 0.707 0 4.36 0.871 0.044 0.980 0.999 14.729 Deleterious (FATHMM)
483 5 112838220 C T Pathogenic APC . . . . . . . . . . 5 112838220 112838220 C T exonic APC . stopgain APC:NM_001127511:exon14:c.C2572T:p.R858X,APC:NM_000038:exon16:c.C2626T:p.R876X,APC:NM_001127510:exon17:c.C2626T:p.R876X 5q22.2 . rs121913333 . . . . . . 0.000 D 1 D . . . . . . . 10.801 36 0.998 0.951 D . . . . 0.707 0 4.09 0.871 0.935 0.892 0.999 14.864 Deleterious (FATHMM)
484 5 112838399 C A Pathogenic APC . . . . . . . . . . 5 112838399 112838399 C A exonic APC . stopgain APC:NM_001127511:exon14:c.C2751A:p.Y917X,APC:NM_000038:exon16:c.C2805A:p.Y935X,APC:NM_001127510:exon17:c.C2805A:p.Y935X 5q22.2 . rs137854575 . . . . . . 0.003 N 1 D . . . . . . . 10.828 36 0.996 0.986 D . . . . 0.707 0 4.9 0.871 0.935 0.985 0.905 13.177 Deleterious (FATHMM)
485 5 112838682 A T Pathogenic APC . . . . . . . . . . 5 112838682 112838682 A T exonic APC . stopgain APC:NM_001127511:exon14:c.A3034T:p.K1012X,APC:NM_000038:exon16:c.A3088T:p.K1030X,APC:NM_001127510:exon17:c.A3088T:p.K1030X 5q22.2 . rs587779786 . . . . . . 0.000 D 1 D . . . . . . . 12.303 39 0.996 0.991 D . . . . 0.707 0 5.76 1.062 1.199 0.990 1.000 16.068 Deleterious (FATHMM)
486 5 112839942 C T Pathogenic APC . . . . . . . . . . 5 112839942 112839942 C T exonic APC . stopgain APC:NM_001127511:exon14:c.C4294T:p.R1432X,APC:NM_000038:exon16:c.C4348T:p.R1450X,APC:NM_001127510:exon17:c.C4348T:p.R1450X 5q22.2 . rs121913332 . . . . . . 0.153 N 1 D . . . . . . . 12.165 38 0.997 0.903 D . . . . 0.707 0 4.2 -0.662 0.020 0.108 0.995 14.037 Deleterious (FATHMM)
487 5 112842303 C T Pathogenic APC . . . . . . . . . . 5 112842303 112842303 C T exonic APC . stopgain APC:NM_001127511:exon14:c.C6655T:p.R2219X,APC:NM_000038:exon16:c.C6709T:p.R2237X,APC:NM_001127510:exon17:c.C6709T:p.R2237X 5q22.2 . rs768922431 . . . . . . 0.000 D 1 D . . . . . . . 13.568 42 0.996 0.845 D . . . . 0.732 0 5.14 0.871 0.935 0.985 1.000 16.408 Deleterious (FATHMM)
488 5 126552059 G C Pathogenic/Likely pathogenic ALDH7A1 . . . . . . . . . . 5 126552059 126552059 G C exonic ALDH7A1 . synonymous SNV ALDH7A1:NM_001202404:exon12:c.G1168G:p.E390E,ALDH7A1:NM_001182:exon14:c.G1279G:p.E427E,ALDH7A1:NM_001201377:exon14:c.G1195G:p.E399E 5q23.2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
489 5 132370015 G T Pathogenic/Likely pathogenic, not provided SLC22A5 . . . . . . . . . . 5 132370015 132370015 G T exonic SLC22A5 . nonsynonymous SNV SLC22A5:NM_001308122:exon1:c.G43T:p.G15W,SLC22A5:NM_003060:exon1:c.G43T:p.G15W 5q31.1 . rs267607052 0.0 D 1.0 D 1.0 D 0.000 D 1 D 4.095 H -1.86 D -6.75 D 0.936 6.589 31 0.996 0.993 D 1.012 D 0.858 D 0.652 0 4.99 0.917 0.949 1.000 1.000 18.275 Deleterious
490 5 132370108 C T Pathogenic SLC22A5 . . . . . . . . . . 5 132370108 132370108 C T exonic SLC22A5 . nonsynonymous SNV SLC22A5:NM_001308122:exon1:c.C136T:p.P46S,SLC22A5:NM_003060:exon1:c.C136T:p.P46S 5q31.1 0.0006 rs202088921 0.0 D 1.0 D 0.998 D 0.000 D 1 D 4.05 H -3.23 D -6.85 D 0.951 5.702 26.8 0.999 0.985 D 1.083 D 0.938 D 0.652 0 5.32 0.871 0.931 0.964 0.848 19.000 Deleterious
491 5 132370220 G T Pathogenic SLC22A5 . . . . . . . . . . 5 132370220 132370220 G T exonic SLC22A5 . nonsynonymous SNV SLC22A5:NM_001308122:exon1:c.G248T:p.R83L,SLC22A5:NM_003060:exon1:c.G248T:p.R83L 5q31.1 . rs72552726 0.0 D 1.0 D 0.995 D 0.000 D 1.000 D 2.3 M -0.94 T -5.78 D 0.912 6.763 32 0.998 0.945 D 0.049 D 0.618 D 0.455 0 5.46 0.917 1.027 0.976 0.996 19.300 Deleterious
492 5 132370336 G T Pathogenic SLC22A5 . . . . . . . . . . 5 132370336 132370336 G T exonic SLC22A5 . nonsynonymous SNV SLC22A5:NM_001308122:exon1:c.G364T:p.D122Y,SLC22A5:NM_003060:exon1:c.G364T:p.D122Y 5q31.1 0.0002 rs201082652 0.001 D 1.0 D 0.987 D 0.019 N 1.000 D 2.8 M -0.83 T -5.87 D 0.901 5.526 26.3 0.994 0.906 D 0.501 D 0.691 D 0.658 0 5.46 0.917 1.045 0.985 0.960 14.177 Deleterious
493 5 132384281 A G Pathogenic/Likely pathogenic, not provided SLC22A5 . . . . . . . . . . 5 132384281 132384281 A G exonic SLC22A5 . nonsynonymous SNV SLC22A5:NM_003060:exon3:c.A632G:p.Y211C,SLC22A5:NM_001308122:exon4:c.A704G:p.Y235C 5q31.1 . rs121908888 0.0 D 1.0 D 1.0 D 0.000 D 1 A 2.705 M -0.85 T -8.16 D 0.991 5.933 27.6 0.998 0.992 D 0.390 D 0.620 D 0.615 0 5.58 1.062 1.199 1.000 0.992 15.748 Deleterious
494 5 132390830 C T Pathogenic/Likely pathogenic, not provided SLC22A5 . . . . . . . . . . 5 132390830 132390830 C T exonic SLC22A5 . nonsynonymous SNV SLC22A5:NM_003060:exon7:c.C1193T:p.P398L,SLC22A5:NM_001308122:exon8:c.C1265T:p.P422L 5q31.1 0.0002 rs144547521 0.003 D 0.96 D 0.833 P 0.000 D 1 D 2.39 M -0.8 T -6.81 D 0.879 7.101 33 0.999 0.942 D 0.116 D 0.575 D 0.615 0 6.17 0.871 0.935 0.934 0.940 20.879 Deleterious
495 5 132390832 C T Pathogenic/Likely pathogenic, not provided SLC22A5 . . . . . . . . . . 5 132390832 132390832 C T exonic SLC22A5 . nonsynonymous SNV SLC22A5:NM_003060:exon7:c.C1195T:p.R399W,SLC22A5:NM_001308122:exon8:c.C1267T:p.R423W 5q31.1 . rs267607054 0.0 D 1.0 D 1.0 D 0.000 D 1 D 4.455 H -1.82 D -7.68 D 0.995 8.018 35 0.999 0.843 D 0.980 D 0.867 D 0.615 0 6.17 0.871 0.935 0.953 0.986 15.581 Deleterious
496 5 132589778 C T Pathogenic RAD50 . . . . . . . . . . 5 132589778 132589778 C T exonic RAD50 . stopgain RAD50:NM_005732:exon9:c.C1393T:p.Q465X 5q31.1 . rs587780150 . . . . . . 0.000 D 1 A . . . . . . . 12.922 40 0.997 0.947 D . . . . 0.732 0 5.51 0.871 0.935 0.971 1.000 14.089 Deleterious (FATHMM)
497 5 132594950 C G Pathogenic RAD50 . . . . . . . . . . 5 132594950 132594950 C G exonic RAD50 . stopgain RAD50:NM_005732:exon12:c.C1875G:p.Y625X 5q31.1 . rs149201802 . . . . . . 0.000 D 1 A . . . . . . . 10.446 36 0.997 0.893 D . . . . 0.732 0 3.6 0.021 0.125 0.997 0.998 9.551 Deleterious (FATHMM)
498 5 132595033 C A Pathogenic RAD50 . . . . . . . . . . 5 132595033 132595033 C A exonic RAD50 . stopgain RAD50:NM_005732:exon12:c.C1958A:p.S653X 5q31.1 . rs587781904 . . . . . . 0.000 D 1 A . . . . . . . 13.194 41 0.996 0.978 D . . . . 0.732 0 5.94 0.871 0.935 0.997 0.995 20.363 Deleterious (FATHMM)
499 5 132638158 C T Pathogenic RAD50|TH2LCRR . . . . . . . . . . 5 132638158 132638158 C T exonic RAD50 . stopgain RAD50:NM_005732:exon23:c.C3553T:p.R1185X 5q31.1 . rs778555849 . . . . . . 0.000 D 1 A . . . . . . . 13.489 42 0.997 0.896 D . . . . 0.732 0 2.84 -0.058 0.935 0.996 0.998 15.833 Deleterious (FATHMM)
500 5 132638203 C T Pathogenic RAD50|TH2LCRR . . . . . . . . . . 5 132638203 132638203 C T exonic RAD50 . stopgain RAD50:NM_005732:exon23:c.C3598T:p.R1200X 5q31.1 . rs750586158 . . . . . . 0.000 D 1 A . . . . . . . 14.816 48 0.998 0.939 D . . . . 0.732 0 5.04 0.871 0.935 1.000 1.000 14.442 Deleterious (FATHMM)
501 5 149010272 C T Pathogenic SH3TC2 . . . . . . . . . . 5 149010272 149010272 C T exonic SH3TC2 . synonymous SNV SH3TC2:NM_024577:exon14:c.C3325A:p.R1109R 5q32 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
502 5 149026872 C T Pathogenic SH3TC2 . . . . . . . . . . 5 149026872 149026872 C T exonic SH3TC2 . synonymous SNV SH3TC2:NM_024577:exon11:c.C2860A:p.R954R 5q32 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
503 5 149980428 C T Pathogenic SLC26A2 . . . . . . . . . . 5 149980428 149980428 C T exonic SLC26A2 . nonsynonymous SNV SLC26A2:NM_000112:exon3:c.C835T:p.R279W 5q32 0.0012 rs104893915 0.0 D 1.0 D 1.0 D 0.000 D 1.000 A 3.425 M -3.31 D -7.43 D 0.95 6.825 32 0.999 0.878 D 1.074 D 0.924 D 0.706 0 5.12 0.871 0.892 0.984 0.996 18.611 Deleterious
504 5 149981550 T A Pathogenic SLC26A2 . . . . . . . . . . 5 149981550 149981550 T A exonic SLC26A2 . nonsynonymous SNV SLC26A2:NM_000112:exon3:c.T1957A:p.C653S 5q32 0.0002 rs104893924 0.008 D 1.0 D 0.993 D 0.000 D 1 A 2.895 M -2.55 D -7.41 D 0.88 4.798 24.8 0.993 0.998 D 0.872 D 0.842 D 0.706 0 5.97 0.991 1.061 1.000 0.998 16.450 Deleterious
505 5 150125571 C T Pathogenic PDGFRB . . . . . . . . . . 5 150125571 150125571 C T exonic PDGFRB . nonsynonymous SNV PDGFRB:NM_002609:exon12:c.C1681A:p.R561S 5q32 . . 0.001 D 1.0 D 0.989 D 0.000 D 1 D 2.645 M -3.48 D -3.69 D 0.805 7.269 34 0.998 0.979 D 1.035 D 0.912 D 0.615 0 4.58 0.917 1.048 0.989 0.987 17.923 Deleterious
506 5 157468728 C A Pathogenic NIPAL4 . . . . . . . . . . 5 157468728 157468728 C A exonic NIPAL4 . nonsynonymous SNV NIPAL4:NM_001172292:exon3:c.C470A:p.A157D,NIPAL4:NM_001099287:exon4:c.C527A:p.A176D 5q33.3 0.0014 rs199422217 0.082 T 0.782 P 0.504 P 0.001 D 1 A 2.11 M -2.69 D -3.37 D 0.957 6.366 29.4 0.996 0.864 D 0.512 D 0.676 D 0.554 0 3.86 0.033 0.049 0.993 0.998 8.582 Deleterious
507 5 162095551 G A Pathogenic/Likely pathogenic GABRG2 . . . . . . . . . . 5 162095551 162095551 G A exonic GABRG2 . nonsynonymous SNV GABRG2:NM_000816:exon3:c.G316A:p.A106T,GABRG2:NM_198903:exon3:c.G316A:p.A106T,GABRG2:NM_198904:exon3:c.G316A:p.A106T 5q34 . rs796052505 0.855 T 0.785 P 0.325 B 0.000 D 1 D 0.17 N -1.12 T -0.01 N 0.733 5.640 26.6 0.985 0.968 D -0.481 T 0.290 T 0.554 0 6.07 0.917 1.048 1.000 0.910 20.644 Tolerated
508 5 177210230 C T Pathogenic NSD1 . . . . . . . . . . 5 177210230 177210230 C T exonic NSD1 . stopgain NSD1:NM_022455:exon5:c.C1831T:p.R611X,NSD1:NM_172349:exon6:c.C1024T:p.R342X 5q35.3 . rs587784077 . . . . . . 0.013 N 1 A . . . . . . . 6.380 29.5 0.995 0.126 N . . . . 0.707 0 3.57 0.871 0.044 0.081 0.041 12.604 Deleterious (DANN)
509 5 177246710 C T Pathogenic NSD1 . . . . . . . . . . 5 177246710 177246710 C T exonic NSD1 . stopgain NSD1:NM_022455:exon10:c.C4411T:p.R1471X,NSD1:NM_172349:exon11:c.C3604T:p.R1202X 5q35.3 . rs570278338 . . . . . . 0.000 D 1 A . . . . . . . 14.832 48 0.998 0.886 D . . . . 0.707 0 5.65 0.871 0.935 0.993 0.996 16.999 Deleterious (FATHMM)
510 5 177282523 G A Pathogenic NSD1 . . . . . . . . . . 5 177282523 177282523 G A exonic NSD1 . nonsynonymous SNV NSD1:NM_022455:exon19:c.G5951A:p.R1984Q,NSD1:NM_172349:exon20:c.G5144A:p.R1715Q 5q35.3 . rs587784169 0.0 D 1.0 D 0.991 D 0.000 D 1 D 3.965 H -3.03 D -3.59 D 0.979 7.940 35 1.000 0.994 D 1.059 D 0.928 D 0.707 0 5.77 0.917 1.048 0.999 0.944 19.958 Deleterious
511 5 177283790 C T Pathogenic NSD1 . . . . . . . . . . 5 177283790 177283790 C T exonic NSD1 . stopgain NSD1:NM_022455:exon20:c.C6013T:p.R2005X,NSD1:NM_172349:exon21:c.C5206T:p.R1736X 5q35.3 . rs587784173 . . . . . . 0.000 D 1 A . . . . . . . 15.703 52 0.998 0.964 D . . . . 0.707 0 4.5 0.871 0.892 0.956 0.996 15.282 Deleterious (FATHMM)
512 5 177283791 G A Pathogenic NSD1 . . . . . . . . . . 5 177283791 177283791 G A exonic NSD1 . nonsynonymous SNV NSD1:NM_022455:exon20:c.G6014A:p.R2005Q,NSD1:NM_172349:exon21:c.G5207A:p.R1736Q 5q35.3 . rs587784174 0.004 D 1.0 D 0.998 D 0.000 D 1 D 2.21 M -2.48 D -3.47 D 0.926 7.902 35 1.000 0.993 D 0.766 D 0.817 D 0.707 0 5.42 0.917 0.998 0.964 0.996 19.595 Deleterious
513 5 177283826 C T Pathogenic NSD1 . . . . . . . . . . 5 177283826 177283826 C T exonic NSD1 . nonsynonymous SNV NSD1:NM_022455:exon20:c.C6049T:p.R2017W,NSD1:NM_172349:exon21:c.C5242T:p.R1748W 5q35.3 . rs587784176 0.0 D 1.0 D 1.0 D 0.000 D 1 D 4.89 H -3.47 D -7.2 D 0.972 8.539 35 0.999 0.978 D 1.079 D 0.963 D 0.707 0 5.42 0.871 0.892 0.999 0.978 19.595 Deleterious
514 5 177283827 G A Pathogenic NSD1 . . . . . . . . . . 5 177283827 177283827 G A exonic NSD1 . nonsynonymous SNV NSD1:NM_022455:exon20:c.G6050A:p.R2017Q,NSD1:NM_172349:exon21:c.G5243A:p.R1748Q 5q35.3 . rs587784177 0.006 D 1.0 D 1.0 D 0.000 D 1 D 4.34 H -3.42 D -3.6 D 0.966 7.969 35 1.000 0.993 D 1.093 D 0.955 D 0.707 0 5.42 0.917 0.998 0.999 0.970 19.595 Deleterious
515 5 177292044 C T Pathogenic NSD1 . . . . . . . . . . 5 177292044 177292044 C T exonic NSD1 . stopgain NSD1:NM_022455:exon22:c.C6349T:p.R2117X,NSD1:NM_172349:exon23:c.C5542T:p.R1848X 5q35.3 . rs587784190 . . . . . . 0.000 D 1 A . . . . . . . 13.634 42 0.998 0.783 D . . . . 0.707 0 2.45 -0.639 -0.136 0.988 0.987 14.384 Deleterious (FATHMM)
516 5 177292149 C T Pathogenic NSD1 . . . . . . . . . . 5 177292149 177292149 C T exonic NSD1 . stopgain NSD1:NM_022455:exon22:c.C6454T:p.R2152X,NSD1:NM_172349:exon23:c.C5647T:p.R1883X 5q35.3 . rs587784199 . . . . . . 0.000 D 1 D . . . . . . . 13.537 42 0.995 0.905 D . . . . 0.707 0 0.909 -0.058 0.847 0.982 1.000 15.133 Deleterious (FATHMM)
517 5 177404231 C A Pathogenic F12|SLC34A1 . . . . . . . . . . 5 177404231 177404231 C A exonic F12 . nonsynonymous SNV F12:NM_000505:exon9:c.C983T:p.T328M 5q35.3 . . 0.011 D 0.999 D 0.791 P 0.241 N 1 N 1.24 L -2.55 D -0.94 N 0.337 4.631 24.5 0.998 0.763 D -0.121 T 0.706 D 0.455 0 4.06 -0.485 0.974 0.001 0.003 12.049 Deleterious
518 5 179836445 C T Pathogenic/Likely pathogenic SQSTM1 . . . . . . . . . . 5 179836445 179836445 C T exonic SQSTM1 . nonsynonymous SNV SQSTM1:NM_003900:exon8:c.C1175T:p.P392L,SQSTM1:NM_001142298:exon9:c.C923T:p.P308L,SQSTM1:NM_001142299:exon9:c.C923T:p.P308L 5q35.3 0.0015 rs104893941 0.002 D 0.988 D 0.3 B 0.000 N 1 A 1.52 L -3.92 D -6.74 D 0.817 7.325 34 0.996 0.996 D 0.578 D 0.634 D 0.646 0 4.78 0.871 0.935 0.960 0.965 17.807 Deleterious
519 6 3154168 A T Pathogenic/Likely pathogenic TUBB2A . . . . . . . . . . 6 3154168 3154168 A T exonic TUBB2A . synonymous SNV TUBB2A:NM_001069:exon4:c.A1033A:p.I345I,TUBB2A:NM_001310315:exon4:c.A778A:p.I260I 6p25.2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
520 6 7559281 C T Pathogenic/Likely pathogenic DSP . . . . . . . . . . 6 7559281 7559281 C T exonic DSP . stopgain DSP:NM_001008844:exon4:c.C478T:p.R160X,DSP:NM_004415:exon4:c.C478T:p.R160X 6p24.3 . rs397516943 . . . . . . 0.000 D 1 A . . . . . . . 9.544 35 0.997 0.880 D . . . . 0.745 0 3.81 0.871 0.044 0.979 0.997 15.313 Deleterious (FATHMM)
521 6 7565521 G A Pathogenic/Likely pathogenic DSP . . . . . . . . . . 6 7565521 7565521 G A splicing DSP NM_004415:exon7:c.939+1G>A,NM_001008844:exon7:c.939+1G>A . . 6p24.3 . rs727504443 . . . . . . . . 1 D . . . . . . . 5.931 27.6 0.995 0.995 D . . . . 0.156 0 5.55 0.917 1.048 0.881 0.573 19.518 Deleterious (FATHMM)
522 6 7576986 C T Pathogenic/Likely pathogenic DSP . . . . . . . . . . 6 7576986 7576986 C T exonic DSP . stopgain DSP:NM_001008844:exon20:c.C2821T:p.R941X,DSP:NM_004415:exon20:c.C2821T:p.R941X 6p24.3 . rs730880082 . . . . . . 0.000 D 1 A . . . . . . . 13.997 44 0.998 0.914 D . . . . 0.707 0 5.77 0.871 0.935 0.999 1.000 14.794 Deleterious (FATHMM)
523 6 7579820 T A Pathogenic/Likely pathogenic DSP . . . . . . . . . . 6 7579820 7579820 T A exonic DSP . stopgain DSP:NM_004415:exon23:c.T3630A:p.Y1210X 6p24.3 . rs727503001 . . . . . . 0.000 D 1 A . . . . . . . 11.132 37 0.996 0.929 D . . . . 0.707 0 4.2 0.991 1.061 1.000 1.000 11.016 Deleterious (FATHMM)
524 6 7580370 C T Pathogenic/Likely pathogenic DSP . . . . . . . . . . 6 7580370 7580370 C T exonic DSP . stopgain DSP:NM_004415:exon23:c.C4180T:p.Q1394X 6p24.3 7.7e-05 rs140474226 . . . . . . 0.001 N 1 A . . . . . . . 12.164 38 0.997 0.854 D . . . . 0.707 0 5.65 0.871 0.065 0.995 0.990 19.722 Deleterious (FATHMM)
525 6 7580721 C T Pathogenic/Likely pathogenic DSP . . . . . . . . . . 6 7580721 7580721 C T exonic DSP . stopgain DSP:NM_004415:exon23:c.C4531T:p.Q1511X 6p24.3 . rs397516940 . . . . . . 0.000 D 1 A . . . . . . . 11.957 38 0.997 0.950 D . . . . 0.707 0 5.74 0.871 0.935 0.594 0.659 19.898 Deleterious (FATHMM)
526 6 32040110 G T Pathogenic CYP21A2 . . . . . . . . . . 6 32040110 32040110 G T exonic CYP21A2 . nonsynonymous SNV CYP21A2:NM_001128590:exon6:c.G754T:p.V252L,CYP21A2:NM_000500:exon7:c.G844T:p.V282L 6p21.33 . rs6471 0.612 T 0.929 P 0.796 P 0.001 D 0.956 A 0.545 N -0.03 T -0.83 N 0.727 3.853 23.4 0.991 0.878 D -0.970 T 0.100 T 0.526 0 4.02 0.917 0.935 0.912 0.412 10.072 Tolerated
527 6 43007265 G A Pathogenic MEA1|PPP2R5D . . . . . . . . . . 6 43007265 43007265 G A exonic PPP2R5D . nonsynonymous SNV PPP2R5D:NM_180977:exon3:c.G274A:p.E92K,PPP2R5D:NM_001270476:exon5:c.G139A:p.E47K,PPP2R5D:NM_006245:exon5:c.G592A:p.E198K,PPP2R5D:NM_180976:exon5:c.G496A:p.E166K 6p21.1 . rs863225082 0.0 D 1.0 D 0.996 D 0.000 D 1 D 3.64 H 0.53 T -3.8 D 0.898 7.066 33 0.999 0.999 D 0.403 D 0.608 D 0.707 0 5.84 0.917 0.953 0.992 0.998 20.155 Deleterious
528 6 43038323 C T Pathogenic CUL7 . . . . . . . . . . 6 43038323 43038323 C T exonic CUL7 . synonymous SNV CUL7:NM_001168370:exon25:c.C4969A:p.R1657R,CUL7:NM_014780:exon25:c.C4717A:p.R1573R 6p21.1 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
529 6 43044883 T G Pathogenic/Likely pathogenic CUL7 . . . . . . . . . . 6 43044883 43044883 T G exonic CUL7 . nonsynonymous SNV CUL7:NM_001168370:exon16:c.T3293C:p.L1098P,CUL7:NM_014780:exon16:c.T3041C:p.L1014P 6p21.1 . . 0.0 D 1.0 D 0.996 D 0.000 D 1 D 2.085 M -2.22 D -4.57 D 0.993 5.100 25.3 0.998 0.996 D 0.601 D 0.719 D 0.707 0 5.18 1.062 1.194 0.883 0.219 15.034 Deleterious
530 6 49431781 C T Pathogenic MUT . . . . . . . . . . 6 49431781 49431781 C T exonic MUT . nonsynonymous SNV MUT:NM_000255:exon13:c.C2200A:p.Q734K 6p12.3 . . 0.735 T 0.0 B 0.002 B 0.000 D 1.000 D -0.155 N -3.48 D 0.32 N 0.289 0.622 8.305 0.568 0.906 D -0.556 T 0.410 T 0.706 0 2.83 0.917 -0.415 0.997 0.923 15.961 Tolerated
531 6 49451591 C T Pathogenic MUT . . . . . . . . . . 6 49451591 49451591 C T exonic MUT . synonymous SNV MUT:NM_000255:exon6:c.C1207A:p.R403R 6p12.3 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
532 6 49451690 A C Pathogenic/Likely pathogenic MUT . . . . . . . . . . 6 49451690 49451690 A C exonic MUT . nonsynonymous SNV MUT:NM_000255:exon6:c.A1108G:p.T370A 6p12.3 . . 0.0 D 1.0 D 1.0 D 0.000 D 1 D 3.065 M -5.24 D -4.95 D 0.78 5.198 25.5 0.998 0.984 D 1.094 D 0.971 D 0.706 0 5.05 0.991 0.913 0.981 0.997 13.977 Deleterious
533 6 51659682 C T Pathogenic/Likely pathogenic PKHD1 . . . . . . . . . . 6 51659682 51659682 C T exonic PKHD1 . nonsynonymous SNV PKHD1:NM_138694:exon61:c.C10444A:p.R3482S 6p12.3 . . 0.005 D 0.984 D 0.512 P 0.028 N 1.000 N 1.04 L -3.34 D -4.08 D 0.754 5.643 26.6 0.993 0.505 D -0.140 T 0.573 D 0.487 0 3.89 0.917 1.048 0.248 0.971 13.341 Deleterious
534 6 51748297 C T Pathogenic/Likely pathogenic PKHD1 . . . . . . . . . . 6 51748297 51748297 C T exonic PKHD1 . synonymous SNV PKHD1:NM_138694:exon58:c.C9319A:p.R3107R,PKHD1:NM_170724:exon58:c.C9319A:p.R3107R 6p12.3 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
535 6 51753327 C T Pathogenic/Likely pathogenic PKHD1 . . . . . . . . . . 6 51753327 51753327 C T exonic PKHD1 . synonymous SNV PKHD1:NM_138694:exon57:c.C8824A:p.R2942R,PKHD1:NM_170724:exon57:c.C8824A:p.R2942R 6p12.3 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
536 6 51903601 T A Pathogenic/Likely pathogenic PKHD1 . . . . . . . . . . 6 51903601 51903601 T A exonic PKHD1 . synonymous SNV PKHD1:NM_138694:exon43:c.T6992T:p.I2331I,PKHD1:NM_170724:exon43:c.T6992T:p.I2331I 6p12.2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
537 6 52024940 C T Pathogenic PKHD1 . . . . . . . . . . 6 52024940 52024940 C T exonic PKHD1 . synonymous SNV PKHD1:NM_138694:exon32:c.C4870A:p.R1624R,PKHD1:NM_170724:exon32:c.C4870A:p.R1624R 6p12.2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
538 6 52058355 C T Pathogenic/Likely pathogenic PKHD1 . . . . . . . . . . 6 52058355 52058355 C T exonic PKHD1 . synonymous SNV PKHD1:NM_138694:exon16:c.C1480A:p.R494R,PKHD1:NM_170724:exon16:c.C1480A:p.R494R 6p12.2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
539 6 52083201 C T Pathogenic, protective PKHD1 . . . . . . . . . . 6 52083201 52083201 C T exonic PKHD1 . nonsynonymous SNV PKHD1:NM_138694:exon3:c.C107A:p.T36K,PKHD1:NM_170724:exon3:c.C107A:p.T36K 6p12.2 . . 0.006 D 1.0 D 0.999 D 0.000 D 0.762 D 1.955 M -2.73 D -4.01 D 0.906 6.700 32 0.993 0.970 D 0.855 D 0.826 D 0.487 0 5.51 0.917 1.048 0.999 0.997 16.569 Deleterious
540 6 79493636 C T Pathogenic LCA5 . . . . . . . . . . 6 79493636 79493636 C T exonic LCA5 . nonsynonymous SNV LCA5:NM_001122769:exon4:c.C835A:p.Q279K,LCA5:NM_181714:exon5:c.C835A:p.Q279K 6q14.1 . . 0.326 T 0.993 D 0.84 P 0.001 D 0.862 D 1.115 L -1.0 T -0.24 N 0.467 4.619 24.5 0.991 0.943 D -0.288 T 0.367 T 0.638 0 5.56 0.917 0.098 0.404 0.171 18.452 Tolerated
541 6 80168945 G C Pathogenic/Likely pathogenic BCKDHB . . . . . . . . . . 6 80168945 80168945 G C exonic BCKDHB . nonsynonymous SNV BCKDHB:NM_000056:exon5:c.G548C:p.R183P,BCKDHB:NM_183050:exon5:c.G548C:p.R183P 6q14.1 0.0003 rs79761867 0.001 D 1.0 D 1.0 D 0.000 D 1 A 4.545 H -3.14 D -6.81 D 0.987 7.238 34 0.997 0.989 D 1.109 D 0.936 D 0.706 0 5.1 0.917 0.989 0.983 0.996 17.552 Deleterious
542 6 80200990 C T Pathogenic/Likely pathogenic BCKDHB . . . . . . . . . . 6 80200990 80200990 C T exonic BCKDHB . stopgain BCKDHB:NM_000056:exon7:c.C799T:p.Q267X,BCKDHB:NM_183050:exon7:c.C799T:p.Q267X 6q14.1 . rs398124594 . . . . . . 0.000 D 1 A . . . . . . . 14.277 45 0.998 0.970 D . . . . 0.706 0 6.17 0.871 0.935 0.948 0.966 18.373 Deleterious (FATHMM)
543 6 80203114 C T Pathogenic/Likely pathogenic BCKDHB . . . . . . . . . . 6 80203114 80203114 C T exonic BCKDHB . stopgain BCKDHB:NM_000056:exon8:c.C853T:p.R285X,BCKDHB:NM_183050:exon8:c.C853T:p.R285X 6q14.1 . rs398124598 . . . . . . 0.000 D 1 A . . . . . . . 10.674 36 0.993 0.720 D . . . . 0.707 0 1.59 -0.058 0.935 0.972 0.601 8.157 Deleterious (FATHMM)
544 6 80273153 C T Pathogenic/Likely pathogenic BCKDHB . . . . . . . . . . 6 80273153 80273153 C T exonic BCKDHB . stopgain BCKDHB:NM_000056:exon9:c.C970T:p.R324X,BCKDHB:NM_183050:exon9:c.C970T:p.R324X 6q14.1 . rs398124603 . . . . . . 0.000 D 1 A . . . . . . . 13.933 44 0.997 0.929 D . . . . 0.693 0 3.89 0.871 0.935 0.999 0.787 11.355 Deleterious (FATHMM)
545 6 80273205 T A Pathogenic/Likely pathogenic BCKDHB . . . . . . . . . . 6 80273205 80273205 T A exonic BCKDHB . nonsynonymous SNV BCKDHB:NM_000056:exon9:c.T1022A:p.I341N,BCKDHB:NM_183050:exon9:c.T1022A:p.I341N 6q14.1 . rs796051939 0.0 D 1.0 D 0.997 D 0.000 D 1 D 4.375 H -3.71 D -6.03 D 0.835 6.776 32 0.991 0.986 D 1.094 D 0.954 D 0.693 0 5.72 0.991 1.061 1.000 0.999 12.409 Deleterious
546 6 98926925 C T Pathogenic FBXL4 . . . . . . . . . . 6 98926925 98926925 C T exonic FBXL4 . synonymous SNV FBXL4:NM_012160:exon3:c.C64A:p.R22R,FBXL4:NM_001278716:exon4:c.C64A:p.R22R 6q16.2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
547 6 118558946 C T Pathogenic PLN|CEP85L . . . . . . . . . . 6 118558946 118558946 C T exonic PLN . nonsynonymous SNV PLN:NM_002667:exon2:c.C25T:p.R9C 6q22.31 . rs111033559 0.0 D 0.999 D 0.939 D 0.000 D 1 A . . -2.96 D -7.33 D 0.969 5.713 26.8 0.998 0.907 D 0.877 D 0.840 D 0.560 0 4.84 0.871 0.852 0.999 0.998 16.699 Deleterious
548 6 118559037 T G Pathogenic/Likely pathogenic PLN|CEP85L . . . . . . . . . . 6 118559037 118559037 T G exonic PLN . stopgain PLN:NM_002667:exon2:c.T116G:p.L39X 6q22.31 . rs111033560 . . . . . . 0.000 D 1 A . . . . . . . 10.815 36 0.974 0.932 D . . . . 0.616 0 5.57 0.991 0.964 0.998 0.854 15.740 Deleterious (FATHMM)
549 6 135433081 C T Pathogenic AHI1 . . . . . . . . . . 6 135433081 135433081 C T exonic AHI1 . synonymous SNV AHI1:NM_001134830:exon14:c.C2212A:p.R738R,AHI1:NM_001134832:exon15:c.C2212A:p.R738R,AHI1:NM_017651:exon15:c.C2212A:p.R738R,AHI1:NM_001134831:exon16:c.C2212A:p.R738R 6q23.3 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
550 6 135455811 C T Pathogenic AHI1 . . . . . . . . . . 6 135455811 135455811 C T exonic AHI1 . nonsynonymous SNV AHI1:NM_001134830:exon8:c.C1267A:p.Q423K,AHI1:NM_001134832:exon9:c.C1267A:p.Q423K,AHI1:NM_017651:exon9:c.C1267A:p.Q423K,AHI1:NM_001134831:exon10:c.C1267A:p.Q423K 6q23.3 . . 0.099 T 0.998 D 0.995 D 0.000 D 1.000 D 1.95 M 0.26 T -2.2 N 0.814 5.801 27.1 0.996 0.992 D -0.469 T 0.326 T 0.615 0 5.7 0.917 0.994 0.996 1.000 19.829 Tolerated
551 6 136822785 C G Pathogenic/Likely pathogenic PEX7 . . . . . . . . . . 6 136822785 136822785 C G exonic PEX7 . stopgain PEX7:NM_000288:exon1:c.C120G:p.Y40X 6q23.3 . rs61753238 . . . . . . 0.000 D 1 A . . . . . . . 12.354 39 0.995 0.906 D . . . . 0.442 0 5.29 0.853 0.907 0.998 1.000 17.48 Deleterious (FATHMM)
552 6 136898213 T A Pathogenic PEX7 . . . . . . . . . . 6 136898213 136898213 T A exonic PEX7 . stopgain PEX7:NM_000288:exon9:c.T875A:p.L292X 6q23.3 0.0005 rs1805137 . . . . . . 0.000 D 1 A . . . . . . . 12.954 40 0.992 0.953 D . . . . 0.706 0 5.82 0.991 1.061 0.995 0.996 15.166 Deleterious (FATHMM)
553 6 136898242 G C Pathogenic PEX7 . . . . . . . . . . 6 136898242 136898242 G C splicing PEX7 NM_000288:exon9:c.903+1G>C . . 6q23.3 7.7e-05 rs148591292 . . . . . . . . 1 A . . . . . . . 4.335 24.0 0.995 0.974 D . . . . 0.263 0 5.82 0.917 1.048 0.990 0.985 18.870 Deleterious (FATHMM)
554 6 157148764 C T Pathogenic ARID1B . . . . . . . . . . 6 157148764 157148764 C T exonic ARID1B . stopgain ARID1B:NM_017519:exon8:c.C2653T:p.R885X,ARID1B:NM_020732:exon9:c.C2692T:p.R898X 6q25.3 . rs794727977 . . . . . . 0.000 D 1 A . . . . . . . 13.399 42 0.998 0.862 D . . . . 0.731 0 6.17 0.871 0.935 1.000 1.000 15.581 Deleterious (FATHMM)
555 7 5977587 G T Pathogenic PMS2 . . . . . . . . . . 7 5977587 5977587 G T splicing PMS2 NM_000535:exon14:c.2445+1C>A . . 7p22.1 . . . . . . . . . . 1 D . . . . . . . 4.219 23.9 0.990 0.979 D . . . . 0.263 0 5.75 0.871 0.925 0.953 0.851 18.929 Deleterious (FATHMM)
556 7 5987078 C T Pathogenic PMS2 . . . . . . . . . . 7 5987078 5987078 C T exonic PMS2 . synonymous SNV PMS2:NM_000535:exon11:c.C1687A:p.R563R 7p22.1 . rs587778618 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
557 7 5989799 G A Pathogenic/Likely pathogenic PMS2 . . . . . . . . . . 7 5989799 5989799 G A splicing PMS2 NM_000535:exon10:c.1144+1C>T . . 7p22.1 . . . . . . . . . . 1 D . . . . . . . 4.783 24.7 0.993 0.940 D . . . . 0.156 0 4.85 0.868 0.847 0.933 0.992 14.708 Deleterious (FATHMM)
558 7 5992059 A G Pathogenic/Likely pathogenic PMS2 . . . . . . . . . . 7 5992059 5992059 A G splicing PMS2 NM_000535:exon9:c.904-2T>C . . 7p22.1 . . . . . . . . . . 1 D . . . . . . . 2.401 18.83 0.878 0.992 D . . . . 0.099 0 4.22 0.991 1.007 0.101 0.714 11.594 Deleterious (FATHMM)
559 7 5995586 C G Pathogenic PMS2 . . . . . . . . . . 7 5995586 5995586 C G exonic PMS2 . synonymous SNV PMS2:NM_000535:exon8:c.C851C:p.S284S 7p22.1 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
560 7 5995614 C T Pathogenic PMS2 . . . . . . . . . . 7 5995614 5995614 C T exonic PMS2 . nonsynonymous SNV PMS2:NM_000535:exon8:c.C823A:p.Q275K 7p22.1 . . 0.973 T 0.064 B 0.008 B 0.320 N 1 N -1.395 N -1.66 D 0.38 N 0.214 -0.338 0.543 0.815 0.159 N -0.874 T 0.131 T 0.719 0 0.6 0.897 0.947 0.037 0.833 4.790 Tolerated
561 7 5997364 C A Pathogenic PMS2 . . . . . . . . . . 7 5997364 5997364 C A exonic PMS2 . synonymous SNV PMS2:NM_000535:exon7:c.C765T:p.Y255Y 7p22.1 . rs573125799 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
562 7 6003794 A T Pathogenic/Likely pathogenic PMS2 . . . . . . . . . . 7 6003794 6003794 A T splicing PMS2 NM_000535:exon4:c.251-2T>A . . 7p22.1 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .
563 7 6009018 T A Pathogenic PMS2 . . . . . . . . . . 7 6009018 6009018 T A exonic PMS2 . synonymous SNV PMS2:NM_000535:exon1:c.T2T:p.M1M 7p22.1 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
564 7 6009019 A T Pathogenic PMS2 . . . . . . . . . . 7 6009019 6009019 A T exonic PMS2 . synonymous SNV PMS2:NM_000535:exon1:c.A1A:p.M1M 7p22.1 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
565 7 44149763 G A Pathogenic GCK . . . . . . . . . . 7 44149763 44149763 G A exonic GCK . nonsynonymous SNV GCK:NM_000162:exon6:c.G676T:p.V226L,GCK:NM_033507:exon6:c.G679T:p.V227L,GCK:NM_033508:exon7:c.G673T:p.V225L 7p13 . . 0.072 T 0.997 D 0.991 D 0.000 D 1 D 1.2 L -4.53 D -2.19 N 0.931 6.417 29.7 0.998 0.955 D 1.002 D 0.934 D 0.578 0 6.17 0.791 0.935 0.987 0.995 20.490 Deleterious
566 7 44150004 G A Pathogenic GCK . . . . . . . . . . 7 44150004 44150004 G A exonic GCK . nonsynonymous SNV GCK:NM_000162:exon5:c.G544T:p.V182L,GCK:NM_033507:exon5:c.G547T:p.V183L,GCK:NM_033508:exon6:c.G541T:p.V181L 7p13 . . 0.001 D 0.991 D 0.983 D 0.000 D 1 D 2.87 M -5.14 D -2.74 D 0.954 7.371 34 0.998 0.958 D 1.095 D 0.974 D 0.554 0 5.83 0.791 0.935 0.975 0.985 19.748 Deleterious
567 7 44152420 G A Pathogenic GCK . . . . . . . . . . 7 44152420 44152420 G A exonic GCK . nonsynonymous SNV GCK:NM_000162:exon3:c.G214T:p.G72W,GCK:NM_033507:exon3:c.G217T:p.G73W,GCK:NM_033508:exon4:c.G211T:p.G71W 7p13 . . 0.0 D 1.0 D 1.0 D 0.000 D 1 D 3.84 H -6.53 D -7.73 D 0.99 7.725 35 0.995 0.959 D 0.947 D 0.992 D 0.554 0 4.67 0.791 0.837 0.967 0.980 17.556 Deleterious
568 7 44153433 C T Pathogenic/Likely pathogenic GCK . . . . . . . . . . 7 44153433 44153433 C T exonic GCK . nonsynonymous SNV GCK:NM_000162:exon2:c.C76A:p.Q26K,GCK:NM_033507:exon2:c.C79A:p.Q27K,GCK:NM_033508:exon3:c.C73A:p.Q25K 7p13 . . 0.068 T 0.0 B 0.001 B 0.025 N 0.966 D 0.09 N -5.23 D -0.17 N 0.474 2.144 17.14 0.975 0.786 D 0.777 D 0.843 D 0.554 0 5.26 0.830 1.048 0.999 0.999 14.823 Deleterious
569 7 66081825 G A Pathogenic/Likely pathogenic ASL . . . . . . . . . . 7 66081825 66081825 G A exonic ASL . nonsynonymous SNV ASL:NM_001024943:exon2:c.G35A:p.R12Q,ASL:NM_001024944:exon2:c.G35A:p.R12Q,ASL:NM_001024946:exon2:c.G35A:p.R12Q,ASL:NM_000048:exon3:c.G35A:p.R12Q 7q11.21 0.0022 rs145138923 0.0 D 1.0 D 0.999 D 0.000 D 1 D 4.225 H -5.81 D -3.51 D 0.919 7.265 34 1.000 0.996 D 0.987 D 0.988 D 0.706 0 4.9 0.866 1.048 1.000 0.999 17.249 Deleterious
570 7 66083175 G A Pathogenic ASL . . . . . . . . . . 7 66083175 66083175 G A splicing ASL NM_000048:exon6:c.446+1G>A,NM_001024943:exon5:c.446+1G>A,NM_001024944:exon5:c.446+1G>A,NM_001024946:exon5:c.446+1G>A . . 7q11.21 7.7e-05 rs142637046 . . . . . . . . 1 D . . . . . . . 4.825 24.8 0.994 0.982 D . . . . 0.295 0 4.68 0.866 0.126 0.988 0.770 16.766 Deleterious (FATHMM)
571 7 66086751 G A Pathogenic ASL . . . . . . . . . . 7 66086751 66086751 G A exonic ASL . nonsynonymous SNV ASL:NM_001024943:exon7:c.G532A:p.V178M,ASL:NM_001024944:exon7:c.G532A:p.V178M,ASL:NM_000048:exon8:c.G532A:p.V178M 7q11.21 0.0005 rs28941473 0.22 T 0.974 D 0.502 P 0.000 D 1 A 1.11 L -5.85 D -0.36 N 0.834 1.896 15.56 0.986 0.940 D 1.111 D 0.939 D 0.707 0 4.78 0.866 1.048 0.969 0.085 13.899 Deleterious
572 7 66086763 C T Pathogenic ASL . . . . . . . . . . 7 66086763 66086763 C T exonic ASL . stopgain ASL:NM_001024943:exon7:c.C544T:p.R182X,ASL:NM_001024944:exon7:c.C544T:p.R182X,ASL:NM_000048:exon8:c.C544T:p.R182X 7q11.21 . rs398123126 . . . . . . 0.000 D 1 A . . . . . . . 12.770 40 0.996 0.855 D . . . . 0.707 0 3.72 -0.108 0.036 0.969 0.876 13.304 Deleterious (FATHMM)
573 7 66089114 A G Pathogenic ASL . . . . . . . . . . 7 66089114 66089114 A G exonic ASL . nonsynonymous SNV ASL:NM_001024946:exon10:c.A779G:p.Q260R,ASL:NM_001024943:exon11:c.A857G:p.Q286R,ASL:NM_001024944:exon11:c.A857G:p.Q286R,ASL:NM_000048:exon12:c.A857G:p.Q286R 7q11.21 . rs28941472 0.004 D 0.874 P 0.772 P 0.000 D 1 A 4.305 H -5.68 D -3.85 D 0.941 5.707 26.8 0.998 0.989 D 1.016 D 0.985 D 0.732 0 4.87 1.003 1.179 1.000 1.000 13.834 Deleterious
574 7 66089693 C T Pathogenic ASL . . . . . . . . . . 7 66089693 66089693 C T exonic ASL . stopgain ASL:NM_001024944:exon12:c.C1000T:p.Q334X,ASL:NM_001024946:exon12:c.C982T:p.Q328X,ASL:NM_001024943:exon13:c.C1060T:p.Q354X,ASL:NM_000048:exon14:c.C1060T:p.Q354X 7q11.21 . rs367543005 . . . . . . 0.000 D 1 A . . . . . . . 11.936 38 0.996 0.777 D . . . . 0.732 0 3.03 -0.105 0.034 0.946 0.997 14.989 Deleterious (FATHMM)
575 7 74051747 C G Pathogenic ELN . . . . . . . . . . 7 74051747 74051747 C G intronic ELN . . . 7q11.23 . rs397516433 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . probably Tolerated (Intron)
576 7 74051748 A G Pathogenic ELN . . . . . . . . . . 7 74051748 74051748 A G splicing ELN NM_001081754:exon16:c.815-2A>G,NM_000501:exon16:c.800-2A>G,NM_001081753:exon16:c.815-2A>G,NM_001278939:exon16:c.800-2A>G,NM_001278918:exon13:c.668-2A>G,NM_001278917:exon15:c.770-2A>G,NM_001081755:exon16:c.800-2A>G,NM_001081752:exon15:c.770-2A>G,NM_001278916:exon15:c.758-2A>G,NM_001278915:exon16:c.800-2A>G,NM_001278914:exon15:c.785-2A>G,NM_001278913:exon13:c.692-2A>G,NM_001278912:exon16:c.800-2A>G . . 7q11.23 . rs727503027 . . . . . . . . 1 D . . . . . . . 4.129 23.8 0.991 0.537 D . . . . 0.114 0 4.81 1.062 1.183 0.885 0.898 11.103 Deleterious (FATHMM)
577 7 74054770 G A Pathogenic ELN . . . . . . . . . . 7 74054770 74054770 G A splicing ELN NM_001081754:exon19:c.1165+1G>A,NM_000501:exon19:c.1150+1G>A,NM_001081753:exon19:c.1165+1G>A,NM_001278939:exon19:c.1150+1G>A,NM_001278918:exon16:c.1018+1G>A,NM_001278917:exon18:c.1120+1G>A,NM_001081755:exon19:c.1150+1G>A,NM_001081752:exon18:c.1120+1G>A,NM_001278916:exon18:c.1108+1G>A,NM_001278915:exon19:c.1150+1G>A,NM_001278914:exon18:c.1135+1G>A,NM_001278913:exon16:c.1042+1G>A,NM_001278912:exon19:c.1150+1G>A . . 7q11.23 . rs727503030 . . . . . . . . 1 D . . . . . . . 3.964 23.6 0.993 0.867 D . . . . 0.066 0 4.04 0.917 0.997 0.919 0.946 11.955 Deleterious (FATHMM)
578 7 74056680 C T Pathogenic ELN . . . . . . . . . . 7 74056680 74056680 C T exonic ELN . stopgain ELN:NM_001278913:exon18:c.C1138T:p.Q380X,ELN:NM_001278918:exon18:c.C1114T:p.Q372X,ELN:NM_001081752:exon20:c.C1294T:p.Q432X,ELN:NM_001278914:exon20:c.C1309T:p.Q437X,ELN:NM_001278916:exon20:c.C1282T:p.Q428X,ELN:NM_001278917:exon20:c.C1294T:p.Q432X,ELN:NM_000501:exon21:c.C1324T:p.Q442X,ELN:NM_001081753:exon21:c.C1339T:p.Q447X,ELN:NM_001081754:exon21:c.C1339T:p.Q447X,ELN:NM_001081755:exon21:c.C1324T:p.Q442X,ELN:NM_001278912:exon21:c.C1324T:p.Q442X,ELN:NM_001278915:exon21:c.C1324T:p.Q442X,ELN:NM_001278939:exon21:c.C1324T:p.Q442X 7q11.23 . rs137854452 . . . . . . . . 1 A . . . . . . . 8.703 35 0.989 0.244 N . . . . 0.646 0 1.97 -0.064 0.843 0.003 0.315 9.723 Deleterious (DANN)
579 7 76303844 G T Pathogenic/Likely pathogenic HSPB1 . . . . . . . . . . 7 76303844 76303844 G T exonic HSPB1 . nonsynonymous SNV HSPB1:NM_001540:exon2:c.G407T:p.R136L 7q11.23 . rs863225022 0.0 D 0.898 P 0.869 P 0.000 D 1 D 3.905 H -2.94 D -6.36 D 0.956 6.212 28.7 0.998 0.967 D 1.066 D 0.907 D 0.442 0 4.42 0.917 1.036 0.991 0.994 16.221 Deleterious
580 7 76304078 C T Pathogenic/Likely pathogenic HSPB1 . . . . . . . . . . 7 76304078 76304078 C T exonic HSPB1 . stopgain HSPB1:NM_001540:exon3:c.C523T:p.Q175X 7q11.23 . rs863225023 . . . . . . 0.000 D 1 D . . . . . . . 11.379 37 0.995 0.806 D . . . . 0.733 0 4.65 0.871 0.056 0.128 0.018 16.694 Deleterious (FATHMM)
581 7 92222870 C T Pathogenic KRIT1 . . . . . . . . . . 7 92222870 92222870 C T exonic KRIT1 . nonsynonymous SNV KRIT1:NM_001013406:exon11:c.C1219A:p.Q407K,KRIT1:NM_004912:exon13:c.C1363A:p.Q455K,KRIT1:NM_194454:exon13:c.C1363A:p.Q455K,KRIT1:NM_194455:exon13:c.C1363A:p.Q455K,KRIT1:NM_194456:exon14:c.C1363A:p.Q455K 7q21.2 . . 0.384 T 0.002 B 0.003 B 0.000 D 1.000 D 0.41 N 1.01 T -0.46 N 0.411 2.038 16.45 0.936 0.981 D -0.894 T 0.157 T 0.732 0 5.26 0.917 0.902 0.998 1.000 18.865 Tolerated
582 7 92494486 G A Pathogenic/Likely pathogenic PEX1|GATAD1 . . . . . . . . . . 7 92494486 92494486 G A splicing PEX1 NM_000466:exon18:c.2926+1C>T,NM_001282677:exon17:c.2755+1C>T,NM_001282678:exon18:c.2302+1C>T . . 7q21.2 . . . . . . . . . . 1 D . . . . . . . 6.029 28.0 0.995 0.998 D . . . . 0.295 0 5.64 0.871 0.931 0.997 1.000 19.702 Deleterious (FATHMM)
583 7 92501562 G A Pathogenic PEX1 . . . . . . . . . . 7 92501562 92501562 G A exonic PEX1 . nonsynonymous SNV PEX1:NM_001282677:exon14:c.G2357T:p.G786V,PEX1:NM_000466:exon15:c.G2528T:p.G843V,PEX1:NM_001282678:exon15:c.G1904T:p.G635V 7q21.2 . . 0.001 D 1.0 D 1.0 D 0.000 D 1 D 2.86 M -3.33 D -8.61 D 0.984 7.140 34 0.998 0.989 D 1.005 D 0.912 D 0.707 0 5.78 0.871 0.931 1.000 0.996 20.012 Deleterious
584 7 92501923 C T Pathogenic/Likely pathogenic PEX1 . . . . . . . . . . 7 92501923 92501923 C T exonic PEX1 . synonymous SNV PEX1:NM_001282677:exon13:c.C2212A:p.R738R,PEX1:NM_000466:exon14:c.C2383A:p.R795R,PEX1:NM_001282678:exon14:c.C1759A:p.R587R 7q21.2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
585 7 107661709 C A Pathogenic/Likely pathogenic SLC26A4|SLC26A4-AS1 . . . . . . . . . . 7 107661709 107661709 C A exonic SLC26A4 . stopgain SLC26A4:NM_000441:exon2:c.C68A:p.S23X 7q22.3 . rs397516430 . . . . . . 0.016 N 1 A . . . . . . . 9.138 35 0.990 0.715 D . . . . 0.443 1 4.21 0.871 0.826 0.868 0.993 11.128 Deleterious (FATHMM)
586 7 107661726 G C Pathogenic/Likely pathogenic SLC26A4|SLC26A4-AS1 . . . . . . . . . . 7 107661726 107661726 G C exonic SLC26A4 . nonsynonymous SNV SLC26A4:NM_000441:exon2:c.G85C:p.E29Q 7q22.3 . rs111033205 0.224 T 0.662 P 0.298 B 0.000 D 0.928 D 1.895 L -2.75 D -1.34 N 0.802 3.477 23.1 0.983 0.739 D 0.395 D 0.730 D 0.443 1 4.21 0.917 0.923 0.996 1.000 15.840 Deleterious
587 7 107661807 T C Pathogenic SLC26A4 . . . . . . . . . . 7 107661807 107661807 T C splicing SLC26A4 NM_000441:exon2:c.164+2T>C . . 7q22.3 . rs397516420 . . . . . . . . 1 D . . . . . . . 4.996 25.1 0.991 0.894 D . . . . 0.167 0 4.21 0.991 0.935 0.997 0.974 12.682 Deleterious (FATHMM)
588 7 107672245 G T Pathogenic SLC26A4 . . . . . . . . . . 7 107672245 107672245 G T exonic SLC26A4 . nonsynonymous SNV SLC26A4:NM_000441:exon4:c.G412T:p.V138F 7q22.3 7.7e-05 rs111033199 0.001 D 0.996 D 0.983 D 0.000 D 1.000 A 2.72 M -3.11 D -3.77 D 0.969 3.357 22.9 0.996 0.974 D 0.957 D 0.884 D 0.487 0 5.12 0.917 1.048 1.000 1.000 18.931 Deleterious
589 7 107674302 G C Pathogenic/Likely pathogenic SLC26A4 . . . . . . . . . . 7 107674302 107674302 G C exonic SLC26A4 . nonsynonymous SNV SLC26A4:NM_000441:exon5:c.G554C:p.R185T 7q22.3 . rs542620119 0.001 D 0.999 D 0.98 D 0.000 D 1.000 D 2.96 M -3.33 D -5.52 D 0.962 4.706 24.6 0.982 0.994 D 1.016 D 0.908 D 0.554 0 5.07 0.917 0.953 0.546 0.081 18.447 Deleterious
590 7 107674970 G T Pathogenic SLC26A4 . . . . . . . . . . 7 107674970 107674970 G T exonic SLC26A4 . nonsynonymous SNV SLC26A4:NM_000441:exon6:c.G626T:p.G209V 7q22.3 0.0005 rs111033303 0.0 D 1.0 D 1.0 D 0.000 D 1 A 3.31 M -4.24 D -8.9 D 0.997 6.446 29.8 0.998 0.994 D 1.096 D 0.962 D 0.554 0 5.61 0.917 0.953 1.000 1.000 19.625 Deleterious
591 7 107675051 T C Pathogenic SLC26A4 . . . . . . . . . . 7 107675051 107675051 T C exonic SLC26A4 . nonsynonymous SNV SLC26A4:NM_000441:exon6:c.T707C:p.L236P 7q22.3 0.0007 rs80338848 0.0 D 0.998 D 0.98 D 0.024 N 1 A 2.655 M -3.71 D -6.19 D 0.956 6.239 28.8 0.999 0.983 D 1.060 D 0.923 D 0.554 0 5.41 0.991 1.061 0.996 0.998 15.433 Deleterious
592 7 107675060 T A Pathogenic/Likely pathogenic SLC26A4 . . . . . . . . . . 7 107675060 107675060 T A exonic SLC26A4 . nonsynonymous SNV SLC26A4:NM_000441:exon6:c.T716A:p.V239D 7q22.3 . rs111033256 0.001 D 0.845 P 0.892 P 0.000 D 1.000 D 2.11 M -3.22 D -5.67 D 0.956 6.380 29.5 0.986 0.980 D 0.924 D 0.867 D 0.554 0 5.59 0.991 1.061 0.991 0.986 15.761 Deleterious
593 7 107683453 A G Pathogenic SLC26A4 . . . . . . . . . . 7 107683453 107683453 A G splicing SLC26A4 NM_000441:exon8:c.919-2A>G . . 7q22.3 . rs111033313 . . . . . . . . 1 D . . . . . . . 4.824 24.8 0.996 0.994 D . . . . 0.061 0 5.62 1.062 1.199 0.998 1.000 16.117 Deleterious (FATHMM)
594 7 107683538 G A Pathogenic SLC26A4 . . . . . . . . . . 7 107683538 107683538 G A splicing SLC26A4 NM_000441:exon8:c.1001+1G>A . . 7q22.3 0.0005 rs80338849 . . . . . . . . 1 A . . . . . . . 5.460 26.1 0.996 0.997 D . . . . 0.061 0 5.62 0.917 1.048 0.998 0.953 20.024 Deleterious (FATHMM)
595 7 107690200 G A Pathogenic SLC26A4 . . . . . . . . . . 7 107690200 107690200 G A exonic SLC26A4 . nonsynonymous SNV SLC26A4:NM_000441:exon10:c.G1226A:p.R409H 7q22.3 . rs111033305 0.0 D 1.0 D 1.0 D 0.000 D 1.000 D 3.43 M -3.86 D -4.8 D 0.998 7.355 34 0.999 0.960 D 1.092 D 0.946 D 0.447 0 5.1 0.917 1.048 0.995 0.810 18.711 Deleterious
596 7 107690203 C T Pathogenic SLC26A4 . . . . . . . . . . 7 107690203 107690203 C T exonic SLC26A4 . nonsynonymous SNV SLC26A4:NM_000441:exon10:c.C1229T:p.T410M 7q22.3 0.0002 rs111033220 0.0 D 1.0 D 0.996 D 0.000 D 1.000 D 3.18 M -3.61 D -4.03 D 0.996 7.062 33 0.999 0.898 D 1.070 D 0.931 D 0.447 0 5.1 0.871 0.935 0.995 0.727 18.711 Deleterious
597 7 107694402 G C Pathogenic/Likely pathogenic SLC26A4 . . . . . . . . . . 7 107694402 107694402 G C splicing SLC26A4 NM_000441:exon11:c.1264-1G>C . . 7q22.3 . rs111033311 . . . . . . . . 1 D . . . . . . . 5.245 25.6 0.995 0.969 D . . . . 0.119 0 5.93 0.917 1.048 0.999 0.992 20.336 Deleterious (FATHMM)
598 7 107694475 C T Pathogenic/Likely pathogenic SLC26A4 . . . . . . . . . . 7 107694475 107694475 C T exonic SLC26A4 . stopgain SLC26A4:NM_000441:exon11:c.C1336T:p.Q446X 7q22.3 . rs397516416 . . . . . . 0.000 D 1 A . . . . . . . 13.961 44 0.998 0.949 D . . . . 0.487 0 5.93 0.871 0.935 1.000 1.000 20.336 Deleterious (FATHMM)
599 7 107695984 G A Pathogenic/Likely pathogenic SLC26A4 . . . . . . . . . . 7 107695984 107695984 G A exonic SLC26A4 . nonsynonymous SNV SLC26A4:NM_000441:exon13:c.G1489A:p.G497S 7q22.3 . rs111033308 0.0 D 1.0 D 1.0 D 0.000 D 1.000 A 3.455 M -4.45 D -5.78 D 0.984 7.418 34 0.999 0.993 D 1.047 D 0.986 D 0.487 0 6.07 0.917 1.048 0.943 0.983 20.659 Deleterious
600 7 107698085 T C Pathogenic/Likely pathogenic SLC26A4 . . . . . . . . . . 7 107698085 107698085 T C exonic SLC26A4 . nonsynonymous SNV SLC26A4:NM_000441:exon14:c.T1588C:p.Y530H 7q22.3 . rs111033254 0.019 D 1.0 D 0.999 D 0.000 D 1.000 A 2.82 M -3.53 D -4.82 D 0.965 6.335 29.3 0.999 0.988 D 1.086 D 0.944 D 0.487 0 5.96 0.991 1.061 0.999 1.000 16.428 Deleterious
601 7 107698112 G A Pathogenic SLC26A4 . . . . . . . . . . 7 107698112 107698112 G A splicing SLC26A4 NM_000441:exon14:c.1614+1G>A . . 7q22.3 7.7e-05 rs111033312 . . . . . . . . 1 D . . . . . . . 3.240 22.8 0.960 0.990 D . . . . 0.054 0 5.07 0.917 1.048 0.999 0.977 16.571 Deleterious (FATHMM)
602 7 107710126 C T Pathogenic/Likely pathogenic SLC26A4 . . . . . . . . . . 7 107710126 107710126 C T exonic SLC26A4 . nonsynonymous SNV SLC26A4:NM_000441:exon19:c.C2162T:p.T721M 7q22.3 . rs121908363 0.0 D 1.0 D 0.999 D 0.000 D 1.000 A 2.56 M -3.59 D -4.7 D 0.962 7.293 34 0.999 0.944 D 1.017 D 0.915 D 0.554 0 5.51 0.871 0.932 0.865 0.906 19.783 Deleterious
603 7 107915506 G T Pathogenic DLD . . . . . . . . . . 7 107915506 107915506 G T exonic DLD . nonsynonymous SNV DLD:NM_001289750:exon7:c.G388T:p.G130C,DLD:NM_001289751:exon8:c.G616T:p.G206C,DLD:NM_001289752:exon8:c.G541T:p.G181C,DLD:NM_000108:exon9:c.G685T:p.G229C 7q31.1 0.0002 rs121964990 0.0 D 1.0 D 1.0 D 0.000 D 1 A 4.035 H 0.3 T -8.42 D 0.97 6.705 32 0.997 0.993 D 0.425 D 0.577 D 0.732 0 5.79 0.917 0.902 0.990 0.919 20.035 Deleterious
604 7 117611650 G A Pathogenic/Likely pathogenic, not provided CFTR . . . . . . . . . . 7 117611650 117611650 G A exonic CFTR . nonsynonymous SNV CFTR:NM_000492:exon20:c.G3209A:p.R1070Q 7q31.2 7.7e-05 rs78769542 0.416 T 1.0 D 0.998 D 0.000 D 1 A 0.965 L -2.67 D -0.14 N 0.936 5.709 26.8 1.000 0.997 D 0.447 D 0.767 D 0.638 0 5.69 0.917 0.949 0.998 0.979 19.821 Deleterious
605 7 117614699 G C Pathogenic CFTR . . . . . . . . . . 7 117614699 117614699 G C exonic CFTR . nonsynonymous SNV CFTR:NM_000492:exon21:c.G3454C:p.D1152H 7q31.2 0.0002 rs75541969 0.005 D 0.574 P 0.572 P 0.000 D 1.000 D 2.15 M -3.51 D -2.68 D 0.785 6.538 31 0.996 0.976 D -0.376 T 0.407 T 0.554 0 5.9 0.917 0.902 0.997 0.991 20.270 Tolerated
606 7 140749365 T G Pathogenic BRAF . . . . . . . . . . 7 140749365 140749365 T G exonic BRAF . synonymous SNV BRAF:NM_004333:exon16:c.T1914C:p.D638D 7q34 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
607 7 140753334 A C Pathogenic BRAF . . . . . . . . . . 7 140753334 140753334 A C exonic BRAF . nonsynonymous SNV BRAF:NM_004333:exon15:c.A1801G:p.K601E 7q34 . rs121913364 0.0 D 0.784 P 0.626 P 0.000 D 1 D 0.74 N -1.64 D -3.71 D 0.947 4.670 24.5 0.999 0.977 D -0.875 T 0.186 T 0.651 0 5.65 0.991 1.057 1.000 1.000 15.933 Tolerated
608 7 140753346 C G Pathogenic BRAF . . . . . . . . . . 7 140753346 140753346 C G exonic BRAF . synonymous SNV BRAF:NM_004333:exon15:c.C1789C:p.L597L 7q34 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
609 7 140753348 G T Pathogenic BRAF . . . . . . . . . . 7 140753348 140753348 G T exonic BRAF . nonsynonymous SNV BRAF:NM_004333:exon15:c.G1787A:p.G596D 7q34 . . 0.0 D 1.0 D 1.0 D 0.000 D 1 D 3.55 H -7.57 D -6.4 D 0.946 7.072 33 0.999 0.978 D 0.448 D 0.625 D 0.651 0 5.65 0.871 0.931 1.000 1.000 19.792 Deleterious
610 7 140753350 T G Pathogenic/Likely pathogenic BRAF . . . . . . . . . . 7 140753350 140753350 T G exonic BRAF . synonymous SNV BRAF:NM_004333:exon15:c.T1785C:p.F595F 7q34 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
611 7 140754187 A G Pathogenic BRAF . . . . . . . . . . 7 140754187 140754187 A G exonic BRAF . nonsynonymous SNV BRAF:NM_004333:exon14:c.A1741C:p.N581H 7q34 . rs180177040 0.001 D 1.0 D 1.0 D 0.000 D 1 D 3.77 H -6.86 D -4.29 D 0.677 5.958 27.7 0.997 0.991 D 0.938 D 0.993 D 0.476 0 5.26 0.673 1.061 1.000 1.000 15.495 Deleterious
612 7 140754233 T G Pathogenic/Likely pathogenic BRAF . . . . . . . . . . 7 140754233 140754233 T G exonic BRAF . synonymous SNV BRAF:NM_004333:exon14:c.T1695C:p.D565D 7q34 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
613 7 140778006 A T Pathogenic/Likely pathogenic BRAF . . . . . . . . . . 7 140778006 140778006 A T exonic BRAF . synonymous SNV BRAF:NM_004333:exon12:c.A1502A:p.E501E 7q34 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
614 7 140778006 A G Pathogenic BRAF . . . . . . . . . . 7 140778006 140778006 A G exonic BRAF . nonsynonymous SNV BRAF:NM_004333:exon12:c.A1502C:p.E501A 7q34 . rs180177039 0.001 D 1.0 D 1.0 D 0.000 D 1 D 3.775 H -6.49 D -5.52 D 0.979 6.632 32 0.997 0.996 D 0.495 D 0.609 D 0.732 0 4.96 0.991 1.007 1.000 1.000 14.344 Deleterious
615 7 140778007 G A Pathogenic/Likely pathogenic BRAF . . . . . . . . . . 7 140778007 140778007 G A exonic BRAF . stopgain BRAF:NM_004333:exon12:c.G1501T:p.E501X 7q34 . . . . . . . . 0.000 D 1 A . . . . . . . 14.756 47 0.996 0.996 D . . . . 0.732 0 4.96 0.871 0.888 1.000 1.000 17.868 Deleterious (FATHMM)
616 7 140778011 A C Pathogenic/Likely pathogenic BRAF . . . . . . . . . . 7 140778011 140778011 A C exonic BRAF . synonymous SNV BRAF:NM_004333:exon12:c.A1497G:p.K499K 7q34 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
617 7 140778013 A G Pathogenic/Likely pathogenic BRAF . . . . . . . . . . 7 140778013 140778013 A G exonic BRAF . nonsynonymous SNV BRAF:NM_004333:exon12:c.A1495C:p.K499Q 7q34 . . 0.002 D 0.018 B 0.03 B 0.000 D 1 D -0.345 N -1.61 D -3.24 D 0.755 5.937 27.6 0.994 0.996 D -0.583 T 0.289 T 0.732 0 4.96 0.991 1.007 1.000 1.000 14.344 Tolerated
618 7 140778054 T C Pathogenic/Likely pathogenic BRAF . . . . . . . . . . 7 140778054 140778054 T C exonic BRAF . nonsynonymous SNV BRAF:NM_004333:exon12:c.T1454G:p.L485W 7q34 . . 0.0 D 0.999 D 0.994 D 0.000 D 1 D 3.255 M -2.06 D -5.61 D 0.936 5.907 27.5 0.966 0.995 D 0.266 D 0.536 D 0.732 0 5.03 1.062 1.136 1.000 1.000 14.464 Deleterious
619 7 140778061 A C Pathogenic/Likely pathogenic BRAF . . . . . . . . . . 7 140778061 140778061 A C exonic BRAF . nonsynonymous SNV BRAF:NM_004333:exon12:c.A1447G:p.K483E 7q34 . . 0.001 D 1.0 D 0.999 D 0.000 D 1 D 3.87 H -7.08 D -3.71 D 0.969 6.300 29.1 0.999 0.991 D 0.533 D 0.620 D 0.732 0 5.03 0.991 1.007 1.000 0.999 14.464 Deleterious
620 7 140781602 G A Pathogenic BRAF . . . . . . . . . . 7 140781602 140781602 G A exonic BRAF . nonsynonymous SNV BRAF:NM_004333:exon11:c.G1406T:p.G469V 7q34 . rs121913355 0.0 D 1.0 D 0.999 D 0.000 D 1 D 3.685 H -2.64 D -8.51 D 0.988 6.897 33 0.998 0.990 D 1.028 D 0.900 D 0.615 0 5.62 0.871 0.892 1.000 1.000 17.843 Deleterious
621 7 140781605 T C Pathogenic BRAF . . . . . . . . . . 7 140781605 140781605 T C exonic BRAF . nonsynonymous SNV BRAF:NM_004333:exon11:c.T1403G:p.F468C 7q34 . . 0.0 D 0.996 D 0.959 D 0.000 D 1 D 2.31 M -2.55 D -7.57 D 0.987 6.019 27.9 0.994 0.992 D -0.343 T 0.369 T 0.615 0 5.62 1.062 1.140 0.999 1.000 14.394 Tolerated
622 7 140781617 G T Pathogenic/Likely pathogenic BRAF . . . . . . . . . . 7 140781617 140781617 G T exonic BRAF . nonsynonymous SNV BRAF:NM_004333:exon11:c.G1391A:p.G464E 7q34 . rs121913348 0.0 D 1.0 D 0.99 D 0.000 D 1 D 3.59 H -2.75 D -7.57 D 0.998 6.860 33 0.998 0.987 D 1.013 D 0.895 D 0.706 0 5.62 0.871 0.892 0.998 1.000 17.843 Deleterious
623 7 140781617 G A Pathogenic/Likely pathogenic BRAF . . . . . . . . . . 7 140781617 140781617 G A exonic BRAF . nonsynonymous SNV BRAF:NM_004333:exon11:c.G1391T:p.G464V 7q34 . rs121913348 0.0 D 0.999 D 0.989 D 0.000 D 1 D 4.05 H -2.77 D -8.51 D 0.998 7.056 33 0.998 0.990 D 1.058 D 0.909 D 0.706 0 5.62 0.871 0.892 0.998 1.000 17.843 Deleterious
624 7 140801502 A G Pathogenic BRAF . . . . . . . . . . 7 140801502 140801502 A G exonic BRAF . nonsynonymous SNV BRAF:NM_004333:exon6:c.A770C:p.Q257P 7q34 . . 0.022 D 0.998 D 0.915 D 0.000 D 1 D 3.58 H -3.38 D -2.46 N 0.871 5.669 26.7 0.994 0.988 D 1.042 D 0.913 D 0.651 0 5.43 0.991 1.058 1.000 1.000 15.498 Deleterious
625 7 140801503 C A Pathogenic/Likely pathogenic BRAF . . . . . . . . . . 7 140801503 140801503 C A exonic BRAF . stopgain BRAF:NM_004333:exon6:c.C769T:p.Q257X 7q34 . . . . . . . . 0.000 D 1 A . . . . . . . 12.523 39 0.998 0.984 D . . . . 0.651 0 5.43 0.917 1.045 1.000 1.000 19.258 Deleterious (FATHMM)
626 7 140801536 G C Pathogenic BRAF . . . . . . . . . . 7 140801536 140801536 G C exonic BRAF . synonymous SNV BRAF:NM_004333:exon6:c.G736G:p.A246A 7q34 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
627 7 140801537 A T Pathogenic/Likely pathogenic BRAF . . . . . . . . . . 7 140801537 140801537 A T exonic BRAF . synonymous SNV BRAF:NM_004333:exon6:c.A735A:p.L245L 7q34 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
628 7 140801537 A C Pathogenic/Likely pathogenic BRAF . . . . . . . . . . 7 140801537 140801537 A C exonic BRAF . synonymous SNV BRAF:NM_004333:exon6:c.A735G:p.L245L 7q34 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
629 7 140801542 A C Pathogenic BRAF . . . . . . . . . . 7 140801542 140801542 A C exonic BRAF . nonsynonymous SNV BRAF:NM_004333:exon6:c.A730G:p.T244A 7q34 . . 0.151 T 0.116 B 0.1 B 0.000 N 1.000 D 0.91 L -3.08 D -0.46 N 0.246 1.747 14.67 0.992 0.980 D -0.063 T 0.604 D 0.651 0 4.01 0.991 1.058 1.000 1.000 10.913 Deleterious
630 7 140801550 C T Pathogenic BRAF . . . . . . . . . . 7 140801550 140801550 C T exonic BRAF . nonsynonymous SNV BRAF:NM_004333:exon6:c.C722A:p.T241K 7q34 . rs387906660 0.0 D 1.0 D 0.998 D 0.000 D 1 D 3.385 M -3.11 D -4.45 D 0.941 7.009 33 0.995 0.995 D 1.050 D 0.910 D 0.476 0 5.17 0.917 1.045 0.993 0.992 18.677 Deleterious
631 7 140801551 A C Pathogenic/Likely pathogenic BRAF . . . . . . . . . . 7 140801551 140801551 A C exonic BRAF . nonsynonymous SNV BRAF:NM_004333:exon6:c.A721G:p.T241A 7q34 . . 0.0 D 0.999 D 0.978 D 0.000 D 1 D 3.125 M -3.15 D -3.71 D 0.8 5.110 25.3 0.999 0.989 D 1.035 D 0.905 D 0.476 0 5.17 0.991 1.058 0.995 0.997 15.024 Deleterious
632 7 141614164 C T Pathogenic AGK . . . . . . . . . . 7 141614164 141614164 C T exonic AGK . stopgain AGK:NM_018238:exon7:c.C409T:p.R137X 7q34 . rs746709222 . . . . . . 0.000 D 1 A . . . . . . . 13.259 41 0.998 0.930 D . . . . 0.651 0 5.03 -0.022 0.020 0.994 0.994 13.320 Deleterious (FATHMM)
633 7 142750600 A T Pathogenic PRSS1|TRB . . . . . . . . . . 7 142750600 142750600 A T exonic PRSS1 . nonsynonymous SNV PRSS1:NM_002769:exon2:c.A86T:p.N29I 7q34 . rs111033566 0.045 D 0.0 B 0.001 B 0.000 D 0.000 A 0.965 L -2.46 D -1.9 N 0.271 2.306 18.21 0.912 0.722 D -0.243 T 0.468 T 0.616 0 2.58 -0.602 -0.077 0.025 0.032 6.669 Tolerated
634 7 143323387 G A Pathogenic/Likely pathogenic CLCN1 . . . . . . . . . . 7 143323387 143323387 G A splicing CLCN1 NM_000083:exon6:c.774+1G>A . . 7q34 . rs776073429 . . . . . . . . 1 D . . . . . . . 5.362 25.9 0.995 0.985 D . . . . 0.054 0 4.27 0.917 0.953 0.996 0.997 16.962 Deleterious (FATHMM)
635 7 143332490 T G Pathogenic CLCN1 . . . . . . . . . . 7 143332490 143332490 T G exonic CLCN1 . nonsynonymous SNV CLCN1:NM_000083:exon11:c.T1238G:p.F413C 7q34 7.7e-05 rs121912799 0.0 D 1.0 D 0.998 D 0.000 D 1.000 A 2.65 M -3.34 D -7.36 D 0.94 6.372 29.5 0.994 0.984 D 1.065 D 0.880 D 0.487 0 5.29 0.991 1.051 1.000 1.000 10.472 Deleterious
636 7 147903619 G A Pathogenic CNTNAP2 . . . . . . . . . . 7 147903619 147903619 G A exonic CNTNAP2 . stopgain CNTNAP2:NM_014141:exon14:c.G2153A:p.W718X 7q35 . rs398124268 . . . . . . 0.000 D 1 A . . . . . . . 13.270 41 0.997 0.990 D . . . . 0.487 0 5.7 0.917 1.048 0.999 0.986 18.412 Deleterious (FATHMM)
637 7 150947440 C T Pathogenic KCNH2 . . . . . . . . . . 7 150947440 150947440 C T exonic KCNH2 . synonymous SNV KCNH2:NM_172057:exon9:c.C2020A:p.R674R,KCNH2:NM_000238:exon13:c.C3040A:p.R1014R 7q36.1 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
638 7 150947478 G A Pathogenic KCNH2 . . . . . . . . . . 7 150947478 150947478 G A exonic KCNH2 . nonsynonymous SNV KCNH2:NM_172057:exon9:c.G1982T:p.W661L,KCNH2:NM_000238:exon13:c.G3002T:p.W1001L 7q36.1 . . 0.061 T 0.889 P 0.444 B 0.000 D 0.997 D 1.675 L -4.88 D -5.99 D 0.699 5.660 26.7 0.987 0.967 D 0.968 D 0.913 D 0.652 0 4.88 0.853 0.854 1.000 1.000 15.550 Deleterious
639 7 150948861 C T Pathogenic KCNH2 . . . . . . . . . . 7 150948861 150948861 C T exonic KCNH2 . synonymous SNV KCNH2:NM_172057:exon6:c.C1567A:p.R523R,KCNH2:NM_000238:exon10:c.C2587A:p.R863R 7q36.1 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
640 7 150948981 C T Pathogenic/Likely pathogenic, not provided KCNH2 . . . . . . . . . . 7 150948981 150948981 C T exonic KCNH2 . synonymous SNV KCNH2:NM_172057:exon6:c.C1447A:p.R483R,KCNH2:NM_000238:exon10:c.C2467A:p.R823R 7q36.1 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
641 7 150950246 G T Pathogenic/Likely pathogenic, not provided KCNH2 . . . . . . . . . . 7 150950246 150950246 G T exonic KCNH2 . nonsynonymous SNV KCNH2:NM_001204798:exon5:c.G1300A:p.D434N,KCNH2:NM_172057:exon5:c.G1300A:p.D434N,KCNH2:NM_000238:exon9:c.G2320A:p.D774N,KCNH2:NM_172056:exon9:c.G2320A:p.D774N 7q36.1 . . 0.001 D 1.0 D 0.999 D 0.000 D 1.000 D 3.34 M -4.49 D -4.86 D 0.346 6.820 32 0.999 0.941 D 1.098 D 0.965 D 0.534 0 4.84 0.871 0.807 1.000 0.998 15.465 Deleterious
642 7 150951442 T C Pathogenic KCNH2 . . . . . . . . . . 7 150951442 150951442 T C intronic KCNH2 . . . 7q36.1 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . probably Tolerated (Intron)
643 7 150951546 A G Pathogenic/Likely pathogenic, not provided KCNH2 . . . . . . . . . . 7 150951546 150951546 A G exonic KCNH2 . nonsynonymous SNV KCNH2:NM_001204798:exon3:c.A827C:p.Y276S,KCNH2:NM_172057:exon3:c.A827C:p.Y276S,KCNH2:NM_000238:exon7:c.A1847C:p.Y616S,KCNH2:NM_172056:exon7:c.A1847C:p.Y616S 7q36.1 . . 0.0 D 1.0 D 0.999 D 0.000 D 1.000 D 4.37 H -5.28 D -8.54 D 0.953 4.838 24.8 0.991 0.825 D 1.048 D 0.979 D 0.696 0 3.08 0.991 0.913 1.000 0.944 8.642 Deleterious
644 7 150951552 C T Pathogenic KCNH2 . . . . . . . . . . 7 150951552 150951552 C T exonic KCNH2 . nonsynonymous SNV KCNH2:NM_001204798:exon3:c.C821A:p.A274E,KCNH2:NM_172057:exon3:c.C821A:p.A274E,KCNH2:NM_000238:exon7:c.C1841A:p.A614E,KCNH2:NM_172056:exon7:c.C1841A:p.A614E 7q36.1 . . 0.0 D 1.0 D 0.999 D 0.000 D 1.000 D 4.12 H -5.23 D -4.74 D 0.982 5.478 26.2 0.995 0.973 D 1.040 D 0.981 D 0.696 0 4.33 0.917 0.902 0.981 0.190 14.341 Deleterious
645 7 150951583 G A Pathogenic KCNH2 . . . . . . . . . . 7 150951583 150951583 G A exonic KCNH2 . nonsynonymous SNV KCNH2:NM_001204798:exon3:c.G790T:p.G264C,KCNH2:NM_172057:exon3:c.G790T:p.G264C,KCNH2:NM_000238:exon7:c.G1810T:p.G604C,KCNH2:NM_172056:exon7:c.G1810T:p.G604C 7q36.1 . . 0.0 D 1.0 D 1.0 D 0.000 D 1.000 D 2.935 M -4.57 D -7.51 D 0.915 6.608 32 0.998 0.967 D 1.100 D 0.958 D 0.696 0 4.33 0.871 0.807 0.983 0.990 14.341 Deleterious
646 7 150951592 G A Pathogenic KCNH2 . . . . . . . . . . 7 150951592 150951592 G A exonic KCNH2 . nonsynonymous SNV KCNH2:NM_001204798:exon3:c.G781T:p.G261C,KCNH2:NM_172057:exon3:c.G781T:p.G261C,KCNH2:NM_000238:exon7:c.G1801T:p.G601C,KCNH2:NM_172056:exon7:c.G1801T:p.G601C 7q36.1 . rs199472936 0.034 D 0.998 D 0.979 D 0.010 N 0.951 D 0.925 L -5.02 D -2.34 N 0.853 5.073 25.3 0.998 0.864 D 0.896 D 0.904 D 0.696 0 3.37 0.871 0.807 0.992 0.969 4.649 Deleterious
647 7 150951711 C T Pathogenic/Likely pathogenic, not provided KCNH2 . . . . . . . . . . 7 150951711 150951711 C T exonic KCNH2 . nonsynonymous SNV KCNH2:NM_001204798:exon3:c.C662A:p.A221E,KCNH2:NM_172057:exon3:c.C662A:p.A221E,KCNH2:NM_000238:exon7:c.C1682A:p.A561E,KCNH2:NM_172056:exon7:c.C1682A:p.A561E 7q36.1 . . 0.0 D 1.0 D 0.999 D 0.000 D 1.000 D 3.815 H -4.98 D -4.79 D 0.944 5.872 27.4 0.996 0.989 D 1.073 D 0.974 D 0.696 0 4.44 0.917 0.902 0.994 0.784 14.592 Deleterious
648 7 150951738 T C Pathogenic KCNH2 . . . . . . . . . . 7 150951738 150951738 T C exonic KCNH2 . nonsynonymous SNV KCNH2:NM_001204798:exon3:c.T635G:p.L212W,KCNH2:NM_172057:exon3:c.T635G:p.L212W,KCNH2:NM_000238:exon7:c.T1655G:p.L552W,KCNH2:NM_172056:exon7:c.T1655G:p.L552W 7q36.1 . . 0.0 D 1.0 D 1.0 D 0.000 D 0.999 D 3.35 M -5.13 D -5.75 D 0.785 4.158 23.8 0.963 0.960 D 1.090 D 0.972 D 0.696 0 4.08 1.062 1.028 1.000 0.979 11.076 Deleterious
649 7 151560610 G A Pathogenic PRKAG2 . . . . . . . . . . 7 151560610 151560610 G A exonic PRKAG2 . nonsynonymous SNV PRKAG2:NM_024429:exon11:c.G869T:p.R290L,PRKAG2:NM_001304531:exon12:c.G869T:p.R290L,PRKAG2:NM_001304527:exon13:c.G1217T:p.R406L,PRKAG2:NM_001040633:exon15:c.G1460T:p.R487L,PRKAG2:NM_016203:exon15:c.G1592T:p.R531L 7q36.1 . rs121908991 0.0 D 1.0 D 1.0 D 0.000 D 1 D 3.2 M -3.47 D -6.44 D 0.932 8.412 35 0.999 0.994 D 1.061 D 0.932 D 0.706 0 5.8 0.871 0.935 1.000 1.000 19.042 Deleterious
650 7 151564146 G C Pathogenic/Likely pathogenic PRKAG2 . . . . . . . . . . 7 151564146 151564146 G C exonic PRKAG2 . synonymous SNV PRKAG2:NM_024429:exon10:c.G793G:p.E265E,PRKAG2:NM_001304531:exon11:c.G793G:p.E265E,PRKAG2:NM_001304527:exon12:c.G1141G:p.E381E,PRKAG2:NM_001040633:exon14:c.G1384G:p.E462E,PRKAG2:NM_016203:exon14:c.G1516G:p.E506E 7q36.1 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
651 7 151576412 G A Pathogenic PRKAG2 . . . . . . . . . . 7 151576412 151576412 G A exonic PRKAG2 . nonsynonymous SNV PRKAG2:NM_024429:exon3:c.G182T:p.R61L,PRKAG2:NM_001304531:exon4:c.G182T:p.R61L,PRKAG2:NM_001304527:exon5:c.G530T:p.R177L,PRKAG2:NM_001040633:exon7:c.G773T:p.R258L,PRKAG2:NM_016203:exon7:c.G905T:p.R302L 7q36.1 . rs121908987 0.023 D 0.91 P 0.552 P 0.000 D 1 D 2.75 M -2.83 D -6.73 D 0.987 7.090 33 0.998 0.985 D 0.742 D 0.824 D 0.707 0 4.54 0.871 0.931 0.998 0.944 13.104 Deleterious
652 8 1780415 G A Pathogenic/Likely pathogenic CLN8 . . . . . . . . . . 8 1780415 1780415 G A exonic CLN8 . nonsynonymous SNV CLN8:NM_018941:exon3:c.G709A:p.G237R 8p23.3 . rs746645358 0.006 D 1.0 D 1.0 D 0.000 U 1 D 1.555 L -2.05 D -2.63 D 0.977 6.028 27.9 0.999 0.988 D 0.391 D 0.699 D 0.707 0 5.17 0.917 1.048 0.753 0.013 18.666 Deleterious
653 8 6642993 G C Pathogenic/Likely pathogenic MCPH1|MCPH1-AS1 . . . . . . . . . . 8 6642993 6642993 G C splicing MCPH1 NM_024596:exon14:c.2453-1G>C . . 8p23.1 . rs587783739 . . . . . . . . 1 D . . . . . . . 4.544 24.3 0.994 0.908 D . . . . 0.295 0 4.82 0.917 0.912 0.983 0.993 13.751 Deleterious (FATHMM)
654 8 54625911 C T Pathogenic RP1 . . . . . . . . . . 8 54625911 54625911 C T exonic RP1 . stopgain RP1:NM_006269:exon4:c.C2029T:p.R677X 8q12.1 . rs104894082 . . . . . . 0.224 N 1 A . . . . . . . 8.818 35 0.996 0.705 D . . . . 0.497 0 4.79 0.871 0.892 0.882 0.402 11.832 Deleterious (FATHMM)
655 8 60741901 C T Pathogenic CHD7 . . . . . . . . . . 8 60741901 60741901 C T exonic CHD7 . stopgain CHD7:NM_001316690:exon1:c.C469T:p.R157X,CHD7:NM_017780:exon2:c.C469T:p.R157X 8q12.2 . rs794727293 . . . . . . 0.006 N 1 A . . . . . . . 9.820 36 0.997 0.685 D . . . . 0.737 0 4.28 -0.058 0.935 0.998 0.998 14.927 Deleterious (FATHMM)
656 8 60742897 C T Pathogenic CHD7 . . . . . . . . . . 8 60742897 60742897 C T exonic CHD7 . stopgain CHD7:NM_001316690:exon1:c.C1465T:p.Q489X,CHD7:NM_017780:exon2:c.C1465T:p.Q489X 8q12.2 . rs794727298 . . . . . . 0.002 N 1 A . . . . . . . 12.083 38 0.998 0.943 D . . . . 0.707 0 5.39 0.871 0.935 0.990 1.000 19.144 Deleterious (FATHMM)
657 8 60742912 C T Pathogenic CHD7 . . . . . . . . . . 8 60742912 60742912 C T exonic CHD7 . stopgain CHD7:NM_001316690:exon1:c.C1480T:p.R494X,CHD7:NM_017780:exon2:c.C1480T:p.R494X 8q12.2 . rs587783429 . . . . . . 0.008 N 1 A . . . . . . . 12.173 38 0.998 0.774 D . . . . 0.707 0 5.39 0.871 0.935 0.997 1.000 14.038 Deleterious (FATHMM)
658 8 60822627 A G Pathogenic CHD7 . . . . . . . . . . 8 60822627 60822627 A G exonic CHD7 . nonsynonymous SNV CHD7:NM_017780:exon12:c.A3082G:p.I1028V 8q12.2 . rs121434338 0.048 D 0.752 P 0.894 P 0.000 D 1 A 0.425 N -3.22 D -0.89 N 0.812 4.949 25.0 0.999 0.988 D 0.815 D 0.790 D 0.732 0 5.53 1.062 1.199 1.000 1.000 15.951 Deleterious
659 8 60838115 C T Pathogenic CHD7 . . . . . . . . . . 8 60838115 60838115 C T exonic CHD7 . stopgain CHD7:NM_017780:exon19:c.C4393T:p.R1465X 8q12.2 . . . . . . . . 0.000 D 1 A . . . . . . . 14.204 45 0.998 0.912 D . . . . 0.707 0 5.32 0.871 0.935 0.995 0.996 15.036 Deleterious (FATHMM)
660 8 60838202 C T Pathogenic CHD7 . . . . . . . . . . 8 60838202 60838202 C T exonic CHD7 . stopgain CHD7:NM_017780:exon19:c.C4480T:p.R1494X 8q12.2 . rs587783442 . . . . . . 0.000 D 1 A . . . . . . . 14.172 45 0.998 0.948 D . . . . 0.707 0 4.42 0.871 0.935 0.961 0.915 15.398 Deleterious (FATHMM)
661 8 60850486 G A Pathogenic CHD7 . . . . . . . . . . 8 60850486 60850486 G A intronic CHD7 . . . 8q12.2 . rs398124321 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . probably Tolerated (Intron)
662 8 60850546 C T Pathogenic CHD7 . . . . . . . . . . 8 60850546 60850546 C T exonic CHD7 . stopgain CHD7:NM_017780:exon26:c.C5458T:p.R1820X 8q12.2 . rs587783446 . . . . . . 0.000 D 1 A . . . . . . . 14.195 45 0.998 0.960 D . . . . 0.722 0 5.49 0.871 0.935 1.000 1.000 14.236 Deleterious (FATHMM)
663 8 60852682 C T Pathogenic CHD7 . . . . . . . . . . 8 60852682 60852682 C T exonic CHD7 . stopgain CHD7:NM_017780:exon30:c.C6079T:p.R2027X 8q12.2 . . . . . . . . 0.000 D 1 A . . . . . . . 12.447 39 0.997 0.991 D . . . . 0.707 0 3.64 0.871 -0.424 0.996 0.991 14.487 Deleterious (FATHMM)
664 8 60852882 C T Pathogenic CHD7 . . . . . . . . . . 8 60852882 60852882 C T exonic CHD7 . stopgain CHD7:NM_017780:exon31:c.C6157T:p.R2053X 8q12.2 . rs587783450 . . . . . . 0.000 D 1 A . . . . . . . 11.115 37 0.996 0.914 D . . . . 0.707 0 2.85 0.067 0.182 0.790 0.188 12.740 Deleterious (FATHMM)
665 8 60854437 C T Pathogenic CHD7 . . . . . . . . . . 8 60854437 60854437 C T exonic CHD7 . stopgain CHD7:NM_017780:exon32:c.C6850T:p.R2284X 8q12.2 . rs587783454 . . . . . . 0.000 D 1 A . . . . . . . 15.585 51 0.998 0.894 D . . . . 0.737 0 5.79 0.871 0.852 1.000 1.000 14.817 Deleterious (FATHMM)
666 8 60862256 C T Pathogenic CHD7 . . . . . . . . . . 8 60862256 60862256 C T exonic CHD7 . stopgain CHD7:NM_001316690:exon3:c.C1744T:p.R582X,CHD7:NM_017780:exon36:c.C7891T:p.R2631X 8q12.2 . rs587783457 . . . . . . 0.000 D 1 A . . . . . . . 16.166 54 0.998 0.994 D . . . . 0.707 0 5.56 0.871 0.931 1.000 1.000 19.601 Deleterious (FATHMM)
667 8 64596913 G A Pathogenic CYP7B1 . . . . . . . . . . 8 64596913 64596913 G A exonic CYP7B1 . nonsynonymous SNV CYP7B1:NM_004820:exon6:c.G1250T:p.R417L 8q12.3 . . 0.0 D 1.0 D 1.0 D 0.000 D 1.000 D 4.065 H -4.29 D -6.74 D 0.986 8.537 35 0.999 0.994 D 1.085 D 0.970 D 0.554 0 5.22 0.871 0.935 0.997 0.994 18.762 Deleterious
668 8 64616207 C T Pathogenic CYP7B1 . . . . . . . . . . 8 64616207 64616207 C T exonic CYP7B1 . synonymous SNV CYP7B1:NM_004820:exon3:c.C334A:p.R112R 8q12.3 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
669 8 74360184 C T Pathogenic GDAP1 . . . . . . . . . . 8 74360184 74360184 C T exonic GDAP1 . nonsynonymous SNV GDAP1:NM_001040875:exon3:c.C154T:p.R52W,GDAP1:NM_018972:exon3:c.C358T:p.R120W 8q21.11 . rs104894078 0.001 D 1.0 D 0.997 D 0.000 D 1.000 A 1.7 L -5.45 D -3.41 D 0.991 7.361 34 0.999 0.864 D 1.139 D 0.967 D 0.706 0 4.64 0.871 0.935 1.000 0.993 12.452 Deleterious
670 8 74361886 C T Pathogenic GDAP1 . . . . . . . . . . 8 74361886 74361886 C T exonic GDAP1 . stopgain GDAP1:NM_001040875:exon4:c.C283T:p.Q95X,GDAP1:NM_018972:exon4:c.C487T:p.Q163X 8q21.11 . rs104894077 . . . . . . 0.000 D 1 A . . . . . . . 12.877 40 0.998 0.978 D . . . . 0.732 0 5.27 0.871 0.935 0.999 0.999 19.088 Deleterious (FATHMM)
671 8 86625982 G A Pathogenic/Likely pathogenic CNGB3 . . . . . . . . . . 8 86625982 86625982 G A splicing CNGB3 NM_019098:exon13:c.1578+1C>T . . 8q21.3 . . . . . . . . . . 1 D . . . . . . . 6.135 28.4 0.996 0.997 D . . . . 0.061 0 5.37 0.871 0.935 0.981 0.994 19.113 Deleterious (FATHMM)
672 8 86643810 G A Pathogenic/Likely pathogenic CNGB3 . . . . . . . . . . 8 86643810 86643810 G A exonic CNGB3 . nonsynonymous SNV CNGB3:NM_019098:exon10:c.G1119T:p.W373C 8q21.3 . . 0.083 T 0.18 B 0.191 B 0.000 D 1 D 2.585 M -4.39 D -11.47 D 0.485 3.894 23.5 0.977 0.947 D 0.897 D 0.897 D 0.487 0 4.55 0.871 0.852 1.000 1.000 14.159 Deleterious
673 8 89943297 C T Pathogenic NBN . . . . . . . . . . 8 89943297 89943297 C T exonic NBN . synonymous SNV NBN:NM_002485:exon14:c.C2140A:p.R714R,NBN:NM_001024688:exon15:c.C1894A:p.R632R 8q21.3 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)
674 8 89943320 C G Pathogenic NBN . . . . . . . . . . 8 89943320 89943320 C G exonic NBN . synonymous SNV NBN:NM_002485:exon14:c.C2117C:p.S706S,NBN:NM_001024688:exon15:c.C1871C:p.S624S 8q21.3 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Tolerated (synonymous)